Genetics Curriculum

Hillside Township School District

Genetics Curriculum

Grade 11

Curriculum Contributors: Carriann DeSanto Lisa Corona

Superintendent of Schools Dr. Antoine Gayles

Directors Dr. Christy Oliver- Hawley

Supervisor Lisa Corona

Board of Education Approved: August 22, 2016

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Table of Contents

Section Page

Mission Statement 3

Academic Overview 3

Affirmative Action Compliance Statement 3

Lesson Plan Template 4

Next Generation Science Standards Overview 6

Units and Pacing Charts

Ongoing Unit: Bioethics 7

Unit 1: Molecular Genetics 9

Unit 2: Transmission Genetics 20

Unit 3: Medical Genetics 32

Unit 4: Genetic Technology 55

Course Pacing and Resources 65

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District Mission Statement

The mission of the Hillside Public Schools is to ensure that all students at all grade levels achieve the New Jersey Core Curriculum Content Standards and make connections to real-world success. We are committed to strong parent-community school partnerships, providing a safe, engaging, and effective learning environment, and supporting a comprehensive system of academic and developmental support that meets the unique needs of each individual. Academic Area Overview

The Hillside Township School District is committed to excellence. We believe that all children are entitled to an education that will equip them to become productive citizens of the twenty-first century. We believe that an education grounded in the fundamental principles of science will provide students with the skills and content necessary to become our future leaders.

A sound science education is grounded in the principles of inquiry and rigor. Children are actively engaged in learning as they model real-world scientific behaviors to construct knowledge. They have ample opportunities to manipulate materials in ways that are developmentally appropriate to their age. They work in an environment that encourages them to take risks, think critically, make models, note patterns and anomalies in those patterns. Children are encouraged to ask questions, not just the "how" and the "what" of observed phenomena, but also the "why".

Our program provides teachers with cost-effective science materials that are aligned to state and national standards, incorporate instructional strategies that are research-based, and provides teachers with a deep understanding of science and the pedagogical underpinnings of science. Our teachers receive quality professional development through a district partnership with the Merck Institute for Science Education as well as the Martinson Foundation at Fairleigh Dickinson University. Our K-8 kit based program encourages "hands-on science" and is endorsed by the National Science Foundation. Equality and Equity in Curriculum The Hillside Township School District ensures that the district’s curriculum and instruction are aligned to the State’s Core Curriculum Content Standards and addresses the elimination of discrimination and the achievement gap, as identified by underperforming school-level AYP reports for State assessment, by providing equity in educational programs and by providing opportunities for students to interact positively with others regardless of race, creed, color, national origin, ancestry, age, marital status, affectional or sexual orientation, gender, religion, disability or socioeconomic status.

N.J.A.C. 6A:7-1.7(b): Section 504, Rehabilitation Act of 1973; N.J.S.A. 10:5; Title IX, Education Amendments of 1972

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Science Department Lesson Plan Template

Lesson Information

Lesson Name: ______Unit: ______Date: ______

Lesson Data

1. Essential Question:

2. NGSS:

3. Knowledge:

Students will know……

4. Skills/ Practices:

Students will be able to…..

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Students will be able to apply….. 5. Crosscutting Concepts:

Evidence of student learning:

6. Assessment:

Include in Lesson Outline: Anticipated timing DO NOW Activities and Investigations 5. Lesson Agenda: Discussion prompts Journal writing prompts Student uses of technology Safety precautions Materials

6. Homework:

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Next Generation Science Standards In 2014, NJ adopted the Next Generation Science Standards with the goal of ensuring our students graduate ready for college and career. The standards for science practice describe varieties of expertise that science educators at all levels should seek to develop in their students. These practices rest on important “processes and proficiencies” with longstanding importance in science education. The Science Framework emphasizes process standards of which include planning investigations, using models, asking questions and communicating information. Crosscutting concepts have value because they provide students with connections and intellectual tools that are related across the differing areas of disciplinary content and can enrich their application of practices and their understanding of core ideas. Throughout the year, students should continue to develop proficiency with the eight science practices. Crosscutting concepts can help students better understand core ideas in science and engineering. When students encounter new phenomena, whether in a science lab, field trip, or on their own, they need mental tools to help engage in and come to understand the phenomena from a scientific point of view. Familiarity with crosscutting concepts can provide that perspective. A next step might be to simplify the phenomenon by thinking of it as a system and modeling its components and how they interact. These preliminary studies may suggest explanations for the phenomena, which could be checked by predicting patterns that might emerge if the explanation is correct, and matching those predictions with those observed in the real world.More information regarding the Next Generation Science Standards can be found at: http://www.nextgenscience.org/

Genetics Overview Students in the Genetics course continue to develop knowledge in the core disciplinary ideas described in the Next Generation Science Standards (NGSS) including science as inquiry. The course will introduce students to the scientific methodologies used in the study of genetics investigations. The objectives of this course are to apply the Next Generation Science Standards (NGSS) Crosscutting Concepts that bridge disciplinary boundaries, uniting core ideas throughout the fields of science and engineering.

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Genetics: Bioethics Unit (ONGOING)

ENDURING UNDERSTANDINGS ESSENTIAL QUESTIONS ✓ The study of genetics in a medical setting creates a variety of ethical ✓ What ethical issues result from our continuously increasing genetics dilemmas. knowledge and rapidly developing genetic technologies? ✓ Bioethicists use an agreed set of principles to make decisions ✓ How do scientists and other stakeholders (families, communities, considering possible outcomes for all stakeholders in a scenario. governments, etc.) work to solve problems and address bioethical concerns?

KNOWLEDGE SKILLS/ PRACTICES CROSSCUTTING CONCEPTS: NGSS Students will know: Students will be able to: Students will be able to apply: Focus on the Skills/Practices Cause and effect: Practices of Bioethics Investigations and Discussions ● Work collaboratively Mechanism and explanation. Events Science and ● Apply understanding of genetics have causes, sometimes simple, Engineering ● Ethicists consider scenarios by apply a series of concepts to authentic bioethical sometimes multifaceted. A major principles to each case. Many of these principles were scenario activity of science is investigating first published in the Belmont report released by the ● Gather and assess relevant facts and explaining causal relationships United States department of Health, Education, and around the issue and the mechanisms by which they Welfare in 1979 ● Perform media center research are mediated. Such mechanisms can o The principle of preserving life states that all and cite sources then be tested across given contexts life is precious and that all possible means ● Communicate orally, in writing, and used to predict and explain should be taken to preserve it. and in graphics events in new contexts. o The principle of do good states that medical ● Identify stakeholders in an professionals must help and promote the ethical conflict welfare of others and must always put the ● Identify the values and needs of patients before their own needs. bioethical principles that apply o Respecting autonomy makes sure that to each stakeholder in an ethical patients have the right to make decisions about conflict

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their health care and whether or not they wish ● Identify possible solutions to to receive treatment. the ethical conflict ▪ Informed consent is the patient’s ● Weigh the benefits and costs of permission to be handled by a possible solutions professional medical worker. This can ● Choose and justify the best be either implied or expressed. solution to an ethical conflict ▪ Advanced directives are written ● Apply the decision-making instructions that outline an individual’s process used by bioethicists to desires regarding care should they decisions made in student lives become unable. o Upholding justice states that all patients Practices regardless of race, religion, economic status ❖ Constructing Explanations receive the same level of care and and Designing Solutions consideration. Construct an explanation based on o Another guiding principle is being honest. valid and reliable evidence obtained Good health care is based on honesty. from a variety of sources (including o Being discreet is also a guiding principle (and students' own investigations, models, a law) that states that a patient’s medical theories, simulations, peer review) background, issues, etc are confidential and and the assumption that theories and should be kept private. laws that describe the natural world o Keeping promises is important and most of operate today as they did in the past the time contracts are involved so all parties and will continue to do so in the know what to expect. future. Design or refine a solution to o Do No Harm is an essential responsibility of a complex real-world problem, based all health care workers. They must work on scientific knowledge, student- within their scope of practice, performing only generated sources evidence, those duties that they have been trained to do. prioritized criteria, and tradeoff If not this can lead to negligence and maybe considerations. malpractice. ❖ Obtaining, Evaluating, and Communicating Information-

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Evaluate the validity and reliability of the claims, methods, and designs.

Unit 1: Molecular Genetics

ENDURING UNDERSTANDINGS ESSENTIAL QUESTIONS ✓ Genes located on chromosomes encode instructions for ✓ How do the instructions in genetic code result in the characteristics of an proteins that result in the characteristics of an organism. organism?

KNOWLEDGE SKILLS/ PRACTICES CROSSCUTTING CONCEPTS: NGSS Students will know: Students will be able to: Students will be able to apply: HS-LS1-1 Skills/Practices Structure and function DNA Structure ● Collect and analyze data to develop Investigating or designing new explanations systems or structures requires a ● Genes are segments of DNA molecules located ● Work collaboratively detailed examination of the in the chromosome of each cell that contain ● Practice lab safety properties of different materials, the genetic information. ● Use models to represent a microscopic structures of different components, ● The DNA molecule is a double helix or twisted process at a macroscopic scale and and connections of components to ladder in which specific subunits (nucleotides) develop explanations reveal its function and/or solve a match up and bond together. ● Change and update existing models as problem. o There are four types of DNA nucleotides new information becomes available with different bases. A (Adenine) pairs ● Construct physical and digital models of with T (Thymine) and C (Cytosine) pairs DNA based on evidence with G (Guanine). A and T are joined in ● Interpret past/historical evidence the helix by two hydrogen bonds and C gathered by genetic researchers to make and G are joined by three hydrogen or support claims about our current bonds. The rails are chains of understanding of DNA structure

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alternating sugars and phosphates that ● Use a human model to demonstrate the run antiparallel to each other. antiparallel nature of DNA strands ● The DNA helix wraps itself around histone ● Manipulate the toilet paper model in proteins which are positively charged amino order to understand how DNA is acids making it possible for them to bond to the constructed into chromosome negatively charged phosphate groups ● Apply understanding of DNA structure ● Four histone molecules make up what is called a to authentic scenarios nucleosome which is the basic unit of Practices eukaryotic chromosome structure. ❖ Constructing Explanations and ● DNA replication is semi conservative, with each Designing Solutions new DNA molecule conserving half of the Construct an explanation based on valid and original double helix. reliable evidence obtained from a variety of sources (including students' own Key Terms: DNA, histone proteins, nucleosome, investigations, models, theories, simulations, antiparallel, nucleotide, adenine, cytosine, guanine, peer review) and the assumption that theories thymine, sugar-phosphate backbone, hydrogen and laws that describe the natural world bonds operate today as they did in the past and will continue to do so in the future. Design or refine a solution to a complex real-world problem, based on scientific knowledge, student-generated sources evidence, prioritized criteria, and tradeoff considerations. ❖ Developing and Using Models Use, synthesize, and develop models to predict and show relationships among variables between systems and their components in the natural and designed world(s).

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HS-LS1-1 Skills/Practices Structure and function DNA Replication Skills Investigating or designing new ● Collect and analyze data to develop systems or structures requires a ● To make copies of DNA for new cells the explanations detailed examination of the process is somewhat complex with use of ● Work collaboratively properties of different materials, the enzymes for each step of the process ● Practice lab safety structures of different components, 1. Helicase unwinds parental strand ● Use models to represent a microscopic and connections of components to 2. Binding proteins stabilize strands process at a macroscopic scale and reveal its function and/or solve a and keep them separate develop explanations problem. 3. Primase makes a short stretch of ● Change and update existing models as RNA on the DNA template new information becomes available 4. DNA polymerase binds nucleotides ● Describe and model how DNA in a continuous fashion (leading replicates to make two identical copies strand) to form a new strand in the 5’ of itself to 3’ direction ● Defend the idea that DNA replication is 5. Discontinuous synthesis (lagging semi-conservative rather than strand) of the other strand produces conservative based on evidence/data Okazaki fragments on the 5’ to 3’ ● Identify ethical implications of anti- template aging research centered on the idea that 6. Ligase joins the Okazaki fragments telomerase could prevent cell aging and seals nicks in the sugar- ● Apply understanding of DNA phosphate backbone replication to authentic scenarios 7. Once complete you have two Practices identical strands of DNA ❖ Analyzing and Interpreting Data ● Telomeres are the tips of linear chromosomes Detailed statistical analysis, the comparison and consist of several thousand repeats of short of data sets for consistency, and the use of DNA sequences. These protect the coding models to generate and analyze data. portions of the DNA at the ends like the plastic Analyze data using computational models in aglets that protect the ends of shoelaces. Over order to make valid and reliable scientific time, telomeres wear away. Telomerase claims. ❖ Developing and Using Models

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enzyme repairs telomeres in cells that copy their Use, synthesize, and develop models to DNA frequently for cell division. predict and show relationships among variables between systems and their Key Terms: Okazaki fragment, semi-conservative, components in the natural and designed DNA replication, helicase, primase, DNA world(s). polymerase, leading strand, lagging strand, ligase, telomeres, telomerase, Skills Structure and function HS-LS1-1 DNA Transcription ● Collect and analyze data to develop Investigating or designing new explanations systems or structures requires a ● In the cell DNA is transcribed to make mRNA ● Work collaboratively detailed examination of the (messenger RNA.) ● Practice lab safety properties of different materials, the ● RNA is transcribed using the template strand of ● Use models to represent a microscopic structures of different components, DNA. process at the macroscopic scale and and connections of components to ● RNA is a single stranded nucleic acid similar to develop explanations reveal its function and/or solve a DNA but uses the nucleotide base Uracil (U) in ● Change and update existing models as problem. place of Thymine and ribose in the place of new information becomes available deoxyribose sugar in the backbone. ● Model how DNA is used as a template Systems and system models. ● Transcription begins with transcription factors to transcribe to mRNA and create Defining the system under study- and the help of RNA polymerase which bind to explanations. specifying its boundaries and gene’s promoter and adds nucleotide bases to a ● Model how mRNA is modified post- making explicit a model of that growing chain, in a sequence complementary to transcription and create explanations system—provides tools for the DNA template strand ● Interpret past/historical evidence understanding and testing ideas that ● mRNA receives a cap of modified nucleotides at gathered by genetic researchers to make are applicable throughout science the 5’ end and a poly A tail at the 3’ end or support claims about our current and engineering. ● After transcription, segments called exons are understanding of DNA transcription translated into proteins and segments called ● Apply understanding about transcription introns are removed. to authentic scenarios Practices ❖ Developing and Using Models

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Key Terms: RNA, mRNA, transcription, Uracil, Use, synthesize, and develop models to ribose, RNA polymerase, promoter, predict and show relationships among complementary, exons, introns variables between systems and their components in the natural and designed world(s). ❖ Constructing Explanations and Designing Solutions Construct an explanation based on valid and reliable evidence obtained from a variety of sources (including students' own investigations, models, theories, simulations, peer review) and the assumption that theories and laws that describe the natural world operate today as they did in the past and will continue to do so in the future. Design or refine a solution to a complex real-world problem, based on scientific knowledge, student-generated sources evidence, prioritized criteria, and tradeoff considerations. HS-LS1-1 Skills Structure and function Protein Synthesis: Translation ● Collect and analyze data to develop Investigating or designing new explanations systems or structures requires a ● There are three types of RNA that are used ● Work collaboratively detailed examination of the during translation ● Practice lab safety properties of different materials, the o mRNA (messenger RNA) carries ● Use models to represent a microscopic structures of different components, information that specifies a particular process at the macroscopic scale and and connections of components to protein product. Vary in length from develop explanations reveal its function and/or solve a 500 to 4,500 bases. ● Change and update existing models as problem. o rRNA (ribosomal RNA) are 100 to new information becomes available nearly 3,000 nucleotides long and this Patterns

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type of RNA associates with certain ● Explain how 64 possible codons only Observed patterns of forms and proteins to form a ribosome code for 20 amino acids events guide organization and o tRNA (transfer RNA) is only 75-80 ● Describe how DNA is used as a classification, and they prompt nucleotides long and forms into loops template to transcribe to mRNA which questions about relationships and characterized by a cloverleaf shape. One is eventually translated into protein. the factors that influence them. loop of the tRNA has three base pairs ● Given a DNA sequence and codon which is complementary to an mRNA chart, predict the complementary RNA codon. This is called the anticodon. sequence and sequence of amino acids ● mRNA is translated into amino acid codes for that will be created synthesis of specific protein structure. These ● Use historical data regarding codons proteins form structures or perform functions in and anticodons to support current cells that contribute to the traits of the organism. explanations of RNA translation o Each group of 3 consecutive mRNA ● Apply understanding of translation to bases forms a codon which specifies for authentic scenarios a specific amino acid Practices o There are 64 possible codons which ❖ Developing and Using Models code for 20 different amino acids Use, synthesize, and develop models to o Translation requires tRNA (transfer predict and show relationships among RNA), ribosomes, energy storage variables between systems and their molecules, enzymes and protein factors. components in the natural and designed ● Translation takes place in three complex steps: world(s). initiation, elongation and termination. ❖ Constructing Explanations and 1. Initiation complex forms with Designing Solutions mRNA, small ribosomal unit and Construct an explanation based on valid and tRNA carrying methionine reliable evidence obtained from a variety of 2. Large ribosomal subunit joins sources (including students' own complex investigations, models, theories, simulations, 3. Second tRNA binds using its peer review) and the assumption that theories anticodon to the next mRNA codon and laws that describe the natural world and its amino acid bonds with the operate today as they did in the past and will first amino acid. continue to do so in the future. Design or

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4. Continues down the mRNA with the refine a solution to a complex real-world P site holding amino acid chain, the problem, based on scientific knowledge, A site holding the newest tRNA and student-generated sources evidence, the E site is where amino acid chain prioritized criteria, and tradeoff will exit the ribosomal unit. considerations. 5. Termination of translation takes place once a stop codon is read by ribosome. ● An open reading frame is a short sequence that indicates the start of a protein encoding gene. It is a stretch of nucleotides that begins with a start codon, followed by amino acid encoding codons, and ends with one or more stop codons.

Key terms: translation, mRNA, rRNA, tRNA, codon, anticodon, amino acid, open reading frame HS-LS1-1 Skills Structure and function Protein Synthesis: Protein Folding ● Collect and analyze data to develop Investigating or designing new explanations systems or structures requires a ● Proteins must fold into a particular confirmation ● Work collaboratively detailed examination of the to be active and functional. ● Use models to represent a microscopic properties of different materials, the o Primary structure is the basic amino acid process at the macroscopic scale and structures of different components, sequence develop explanations and connections of components to o Secondary structure forms as amino ● Change and update existing models as reveal its function and/or solve a acids close in the primary structure new information becomes available problem. attract one another. Examples of ● Use paper folding test to demonstrate secondary structure include a helix and a how the stability of a protein structure Systems and system models. pleated sheet. becomes more concrete with each new Defining the system under o Tertiary structure forms as more amino form study—specifying its boundaries acids attract and/or repel in response to ● Apply understanding of protein and making explicit a model of that water molecules and form bonds with structure to authentic scenarios system—provides tools for

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amino acids farther away on the primary Practices understanding and testing ideas that structure. ❖ Analyzing and Interpreting Data are applicable throughout science o Quaternary structure forms when a Analyze data using computational models in and engineering. protein consists of more than one order to make valid and reliable scientific polypeptide claims. ● Prions, protein folding disorder which arises in ❖ Developing and Using Models glycoproteins, can cause disease in individuals. Use, synthesize, and develop models to Change in folding takes place in the secondary predict and show relationships among structure when prions should be folded in alpha variables between systems and their helices but instead forms in beta sheets. components in the natural and designed o Kuru disease is an example of a prion world(s). disease found in the population of New Guinea. Persons who prepare human brain for cannibalism rituals pass on the infectious prion. o Creutzfeldt-Jakob disease is also a prion disease in which route of transmission is either through corneal transplants or from human growth hormone taken from cadavers and used to treat children of short stature.

Key terms: prions, primary structure, secondary structure, helix, pleated sheet, polypeptide, glycoprotein, tertiary structure, quaternary structure, kuru, creutzfeld Jakob HS-LS1-1 Skills Structure and function HS-LS3-1 Proteins to Phenotypes ● Collect and analyze data to develop Investigating or designing new HS-LS1-7 explanations systems or structures requires a ● Work collaboratively detailed examination of the ● Practice lab safety properties of different materials, the

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● Most proteins act as enzymes to carry on ● Use models to represent a microscopic structures of different components, cellular processes such as transcription and process at the macroscopic scale and and connections of components to translation. develop explanations reveal its function and/or solve a ● A metabolic pathway is a series of chemical ● Change and update existing models as problem. reactions catalyzed by enzyme proteins that new information becomes available produce a result in the body. ● Explain how the non-production of an Cause and effect: o Cellular respiration is an example of enzyme will result in an inborn error of Mechanism and explanation. how enzymes are used to move a metabolism Events have causes, sometimes molecule through a chemical process ● Describe how enzymes are critical to simple, sometimes multifaceted. A that starts as glucose and ends as each part in a metabolic pathway major activity of science is pyruvate. ● Interpret past/historical evidence investigating and explaining causal ● Phenotype is the observable properties of an gathered by genetic researchers to make relationships and the mechanisms organism that are controlled genetically. or support claims about our current by which they are mediated. Such (Example: brown eyes or blue eyes) understanding of gene expression mechanisms can then be tested ● Genotype is the genetic makeup of an ● Apply understanding of genotype and across given contexts and used to organism. (Example: BB, Bb, bb) phenotype to authentic scenarios predict and explain events in new ● Metabolic pathways can be disrupted in Practices contexts. different areas which in turn will create ❖ Analyzing and Interpreting Data different genetic disorders. Analyze data using computational models in Energy and Matter o Individuals with PKU are not able to order to make valid and reliable scientific Energy cannot be created or process phenylalanine into Tyrosine claims. destroyed—it only moves between because the enzyme Phenylalanine one place and another place, between hydroxylase is not produced. These ❖ Developing and Using Models objects and/or fields, or between individuals will have a build of the Use, synthesize, and develop models to systems. amino acid phenylalanine in the brain predict and show relationships among which could cause permanent damage if variables between systems and their not reversed. components in the natural and designed o In the same pathway if an individual is world(s). able to turn phenylalanine into tyrosine but then in turn cannot make DOPA you end up with Albinism which is a disease

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that affects the amount of melanin produced by cells.

Key Terms: Phenotype, genotype, PKU, albinism, enzyme HS-LS1-1 Skills Structure and function HS-LS3-1 Gene Expression ● Collect and analyze data to develop Investigating or designing new HS-LS3-2 explanations systems or structures requires a ● Changes in gene expression occur over time at ● Work collaboratively detailed examination of the the molecular level (globin switching), at the ● Practice lab safety properties of different materials, the tissue level (blood plasma), and at the ● Use models to represent a microscopic structures of different components, organ/gland level (pancreas development). process at the macroscopic scale and and connections of components to ● Acetylation (bonding of an acetyl group) of develop explanations reveal its function and/or solve a certain histones enables the transcription of ● Change and update existing models as problem. associated genes. Phosphorylation (bonding of new information becomes available a phosphate to a molecule) and methlyation ● Interpret past/historical evidence Cause and effect: (bonding of a methyl group to a molecule) are gathered by genetic researchers to make Mechanism and explanation. also important in chromatin remodeling. or support claims about our current Events have causes, sometimes ● Only 1.5% of the human genome encodes for understanding of gene expression simple, sometimes multifaceted. A protein, yet those 25,000 or so genes specify up ● Use data to identify patterns and major activity of science is to 200,000 proteins. propose explanations for the expression investigating and explaining causal ● Exon shuffling, process of combining exons, is of a particular gene relationships and the mechanisms important in gene expression. ● Apply understanding of gene expression by which they are mediated. Such ● Epigenetics is the study of how an organism to authentic scenarios mechanisms can then be tested switches parts of the genome on and off at Practices across given contexts and used to strategic times and locations. ❖ Developing and Using Models predict and explain events in new o The genome dramatically responds to the Use, synthesize, and develop models to contexts. environment, including stress, diet, predict and show relationships among behavior and toxins. variables between systems and their o Chromatin remodeling is an example of components in the natural and designed epigenetics. world(s).

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● Expression of genes is also disrupted by ❖ Constructing Explanations and something called interfering RNA (siRNA). Designing Solutions Expression is affected in the nucleus and Construct an explanation based on valid and cytoplasm. In the nucleus siRNA help add reliable evidence obtained from a variety of methyls to histones and this shuts off sources (including students' own transcription at its start. Smaller siRNAs in the investigations, models, theories, simulations, cytoplasm bind to mature mRNAs acting after peer review) and the assumption that theories transcription has ended and before translation and laws that describe the natural world can begin. operate today as they did in the past and will continue to do so in the future. Design or Key Terms: Acetylation, phosphorylation, refine a solution to a complex real-world methlyation, epigenetics, interfering RNA problem, based on scientific knowledge, student-generated sources evidence, prioritized criteria, and tradeoff considerations.

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Unit 2: Transmission Genetics Unit

ENDURING UNDERSTANDINGS ESSENTIAL QUESTIONS ✓ There are predictable patterns of inheritance ✓ How is genetic information passed through generations?

CROSSCUTTING KNOWLEDGE SKILLS/PRACTICES NGSS CONCEPTS: Students will know: Students will be able to: Students will be able to apply: HS-LS1-4 Skills Meiosis ● Collect and analyze data to develop Systems and System explanations Models (e.g., physical, ● Meiosis reduces the chromosome number in ● Work collaboratively mathematical, computer models) gametes to one genome. This maintains ● Practice lab safety can be used to simulate systems chromosome number from generation to ● Use models to represent a microscopic and interactions—including generation. process at the macroscopic scale and develop energy, matter, and information ● Events such as crossing over and explanations flows—within and between independent assortment ensure genetic ● Change and update existing models as new systems at different scales variability by partitioning different information becomes available combinations of alleles into gametes. ● Predict all of the possible combinations of o An allele is a specific version of the gametes that a parent cell could produce instructions for a single trait. There through meiosis can be several different versions of the ● Demonstrate through modeling how the instructions. sorting and recombination of alleles attributes ● Meiosis occurs in two divisions. The first to genetic variability division is called reduction division or ● Apply understanding of meiosis to authentic meiosis I which reduces the number of scenarios replicated chromosomes from 46 to 23. The Practices second division is called equational division ❖ Developing and Using Models or meiosis II which produces four cells Use, synthesize, and develop models to predict and show relationships among variables between

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(gametes) from the two cells formed in the systems and their components in the natural and first division. designed world(s). o Each division has four distinct phases: prophase, metaphase, anaphase and telophase. o Parental cell which begins the process of meiosis is diploid, having two copies of each allele. The four daughter cells that end meiosis are haploid because they only have one copy of each allele.

Key Terms: Meiosis, crossing over, independent assortment, haploid, diploid, allele HS-LS3-3 Skills Scale, Proportion, and Mendelian Genetics ● Collect and analyze data to develop Quantity explanations Algebraic thinking is used to ● Mendel demonstrated using experimental ● Work collaboratively examine scientific data and predict evidence that there are mechanisms that ● Practice lab safety the effect of a change in one account for predictability and variability of ● Use models to represent a microscopic variable on another (e.g., linear genetic patterns which apply to all diploid process at the macroscopic scale and develop growth vs. exponential growth). organisms. explanations o Law of Segregation states that during ● Change and update existing models as new meiosis the distribution of alleles of a information becomes available gene separate into gametes (egg and ● Interpret past/historical evidence gathered by sperm) genetic researchers to make or support claims o Law of Independent Assortment about our current understanding of Mendelian describes the random arrangement of Genetics homologous chromosome pairs during ● Use probability laws to make predictions and metaphase I. This means that solve inheritance word problems inheritance of one gene on one ● Given a genotype, determine phenotype

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chromosome does not influence the ● Given a phenotype, determine genotype inheritance of a gene on a different ● Create a pedigree to represent genotype and chromosome. phenotype data ▪ The chance that two independent ● Make claims about inheritance patterns based genetic events will both occur is on data from a pedigree equal to the product of the ● Apply understanding of inheritance to probabilities that each event will authentic situations occur on its own. This is called Practices the product rule and is useful in ❖ Developing and Using Models calculating the risk that certain Use, synthesize, and develop models to predict individuals will inherit a and show relationships among variables between particular genotype. systems and their components in the natural and ● A diploid individual with two identical designed world(s). alleles of a gene is considered homozygous ❖ Analyzing and Interpreting Data (represented by two letters such as RR). A Analyze data using computational models in order diploid individual with two different alleles to make valid and reliable scientific claims. of a gene is considered heterozygous ❖ Constructing Explanations and (represented by two letters such as Rr) Designing Solutions ● Some alleles are dominant (represented by a Construct an explanation based on valid and capital letter such as R) to other recessive reliable evidence obtained from a variety of alleles (represented by a lower case letter sources (including students' own investigations, such as r). The traits encoded in the models, theories, simulations, peer review) and dominant allele are expressed in the the assumption that theories and laws that describe offspring in the case that both dominant and the natural world operate today as they did in the recessive alleles are present (heterozygous past and will continue to do so in the future. Rr). Design or refine a solution to a complex real- ● An individual may be homozygous dominant world problem, based on scientific knowledge, (RR), homozygous recessive (rr), or student-generated sources evidence, prioritized heterozygous (Rr) for a specific trait. criteria, and tradeoff considerations. ● Each offspring has a 50 % chance of getting either of the mother’s two alleles and a 50 %

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chance of getting either of the father’s two alleles for a given trait. ● Punnett square is tool used to follow the transmission of alleles. It is based on probability. ● Traits or disorders caused by a single gene are called Mendelian traits. o When crossing two true breeding types (P or parental generation) the expected ratio is 3:1 (offspring or F1 generation) and when breeding the offspring of the F1 generation one should expect ratios of 1:2:1. ● Modes of inheritance enable geneticists to predict phenotype. o In autosomal dominant inheritance, males and females may be affected, and the trait does not skip generations. o In autosomal recessive inheritance the trait may affect either males or females and may skip generations. ▪ Autosomal recessive conditions are more likely to occur in families with consanguinity. ● A pedigree is a chart that depicts family relationships and patterns of inheritance for particular traits.

Key Terms: homozygous, heterozygous, dominant, recessive, pedigree, autosomal, Law of

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Segregation, Law of Independent Assortment, true breeding, genotype, phenotype HS-LS3-2 Skills Scale, Proportion, and HS-LS3-3 Exceptions to Mendel’s Laws ● Collect and analyze data to develop Quantity explanations Algebraic thinking is used to ● The following phenomena can disrupt ● Work collaboratively examine scientific data and predict Mendelian phenotypic ratios and have ● Practice lab safety the effect of a change in one different affects on the actual phenotype: ● Use models to represent a microscopic variable on another (e.g., linear ● Lethal alleles: a phenotypic class dies very process at the macroscopic scale and develop growth vs. exponential growth). early in development. explanations Cause and effect: o In humans early acting lethal alleles will ● Change and update existing models as new Mechanism and explanation. cause spontaneous abortion or information becomes available Events have causes, sometimes miscarriage. ● Interpret past/historical evidence gathered by simple, sometimes multifaceted. o In certain breeds of dogs, especially the genetic researchers to make or support claims A major activity of science is Mexican hairless dog, receiving two about our current understanding of exceptions investigating and explaining dominant alleles will result in to Mendelian Genetics causal relationships and the spontaneous abortion. ● Compare inheritance patterns of certain traits mechanisms by which they are ● Multiple alleles: Many variants or degrees to expected Mendelian patterns and make mediated. Such mechanisms can of a phenotype occur even though a person claims about the possible causes of then be tested across given still one inherits one allele from each parent. unexpected results contexts and used to predict and o Examples: PKU, Cystic Fibrosis ● Use probability laws to make predictions and explain events in new contexts. ● Incomplete dominance: A heterozygote’s solve inheritance word problems phenotype is intermediate between those of ● Given a genotype, determine phenotype the homozygotes. ● Given a phenotype, determine genotype o Example: Familial hypercholesterolemia ● Create a pedigree to represent genotype and ● Codominance: A heterzygote’s phenotype is phenotype data distinct from and not intermediate between ● Make claims about inheritance patterns based the two homozygotes. on data from a pedigree o Example: Human Blood Types ● Apply understanding of inheritance to ● Epistasis: One gene masks or otherwise authentic situations affects another’s phenotype Practices 24

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o Example: Bombay phenotype ❖ Engaging in Argument from Evidence ● Maternal inheritance and mitochondrial Make and defend a claim based on evidence about genes: Genes that are only passed from the the natural world that reflects scientific mother to both male and female offspring. knowledge, and student-generated evidence. o Features of mitochondrial DNA include ❖ Analyzing and Interpreting Data no crossing over, no DNA repair, high Analyze data using computational models in order exposure to oxygen free radicals, no to make valid and reliable scientific claims histones, no introns, and maternal inheritance. o Genetic disorders in mitochondrial DNA are associated with defects in energy conversion and usually affect the nervous system, muscles, liver and kidneys. ● Penetrance: Some individuals with a particular genotype do not have the associated phenotype o Refers to the all-or-nothing expression of a genotype. o Genetic and environmental factors can influence penetrance. o Polydactyly is incompletely penetrant. Some people who inherit the dominant allele have more than five digits on a hand or foot yet others who must have the allele based on their parents, have the normal number of fingers and toes. ● Expressivity: A genotype is associated with a phenotype of varying intensity o Refers to the severity or extent of the trait.

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o One person with polydactyly may have an extra digit on both hands and a foot whereas another individual may only have an extra fingertip. ● Pleiotropy: The phenotype includes many symptoms, with different subsets in different individuals o This is the case for porphyria variegata, an autosomal dominant, pleiotropic, inborn error of metabolism. o Occurs when a single protein affects different parts of the body or participates in more than one type of biochemical pathway. Because of this symptoms may present differently in individuals and can be misdiagnosed. ● Phenocopy: An environmentally caused condition has symptoms and a reoccurrence pattern similar to those of a known inherited trait. o Limb birth defect caused by thalidomide, a drug given to pregnant women for morning sickness (teratogen) mimicked the inherited disorder called phocomelia.

Key Terms: phenocopy, pleiotropy, expressivity, penetrance, teratogen, epistasis, codominance, incomplete dominance, cystic fibrosis, polydactyly, porphyria variegate, phocomelia

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HS-LS3-1 Skills Cause and effect: HS-LS3-2 X-Linked Inheritance ● Collect and analyze data to develop Mechanism and explanation. HS-LS3-3 explanations Events have causes, sometimes ● Sexual development ● Work collaboratively simple, sometimes multifaceted. o Sexual identity includes sex ● Practice lab safety A major activity of science is chromosome makeup, gonadal ● Use models to represent a microscopic investigating and explaining specialization, expression of phenotypic process at the macroscopic scale and develop causal relationships and the structures, and gender identity explanations mechanisms by which they are o The male is consider heterogametic ● Change and update existing models as new mediated. Such mechanisms can because they carry X and Y information becomes available then be tested across given chromosome whereas females are ● Interpret past/historical evidence gathered by contexts and used to predict and homogametic because they carry two X genetic researchers to make or support claims explain events in new contexts. chromosomes. about our current understanding of X-linked Scale, Proportion, and o The SRY gene controls the development inheritance Quantity of the fetus into either male or female. ● Compare inheritance patterns of X-linked Algebraic thinking is used to If SRY gene is expressed, the traits to expected Mendelian patterns and examine scientific data and predict undifferentiated gonads will develop make claims about the cause of unexpected the effect of a change in one into testes. If the SRY gene is not results variable on another (e.g., linear activated, the gonads develop into ● Use probability laws to make predictions and growth vs. exponential growth). ovaries. solve inheritance word problems o Eight weeks into fetal development cells ● Given a genotype, determine phenotype in the testes secrete anti-Mullerian ● Given a phenotype, determine genotype hormone, which prevents the ● Create a pedigree to represent genotype and development of female reproductive phenotype data structures. If SRY is not activated then ● Make claims about inheritance patterns based the Mullerian ducts will continue to on data from a pedigree develop into female reproductive ● Apply understanding of inheritance to structures. authentic situations ● Traits inherited on sex chromosomes Practices o Y-linked traits are very rare and can ❖ Engaging in Argument from Evidence only be passed from father to son

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o X-linked traits have certain criteria Make and defend a claim based on evidence about based on whether or not they are the natural world that reflects scientific dominant or recessive. X-linked knowledge, and student-generated evidence. recessive traits are always expressed in ❖ Analyzing and Interpreting Data the male, can be expressed in the female Analyze data using computational models in order only if it is homozygous (very rarely if to make valid and reliable scientific claims she is heterozygous), passed from ❖ Asking Questions and defining problems heterozygote or homozygote mother to Ask questions that arise from examining models son, and an affected female must have or a theory to clarify relationships. had an affected father and a mother who was either affected or a carrier of the trait. ▪ Disorders such as Hemophilia A, Colorblindness, and Ichthyosis are all disorders that are X-linked recessive. o X-linked dominant traits are expressed in the female if she has one copy of the allele, expressed in males much more severely, and there are high rates of miscarriage due to early lethality in males. ▪ Disorders such as congenital generalized hypertrichosis (CGH) and Incontinentia pigmenti (IP) ● X-inactiviation in females o X inactivation shuts off one X chromosome in each cell in female mammals. In each cell it is a 50/50 shot that the X from mom will be shut off or

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the X from dad will be shut off. So a female will express X chromosome genes from dad in some cells and the X chromosome genes from mom in some cells. This makes females mosaics for heterozygous genes on the X chromosome. o This process makes females chromosomally equivalent to males. ● Sex-limited and Sex-influenced traits o Sex-limited traits affect a structure or function of the body that is present in only males or females. Examples in humans would be beard growth and breast size. These genes can be passed by both parents but will affect offspring according to gender. o Sex-influenced traits are traits that are dominant in one sex and recessive in the other sex. An example would be the baldness gene. This gene is dominant in males but recessive in females.

Key Terms: sex limited, sex influenced, heterogametic, homogametic, X inactivation HS-LS3-2 Skills Cause and effect: HS-LS3-3 Multifactorial and Behavioral Genetics ● Collect and analyze data to develop Mechanism and explanation. explanations Events have causes, sometimes ● Multifactorial traits are attributable to both ● Work collaboratively simple, sometimes multifaceted. the environment and genes. ● Practice lab safety A major activity of science is investigating and explaining

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● A polygenic trait is determined by more than ● Use models to represent a microscopic causal relationships and the one gene and varies continuously in its process at the macroscopic scale and develop mechanisms by which they are expression. explanations mediated. Such mechanisms can o The frequency of distribution of ● Change and update existing models as new then be tested across given phenotypes for a polygenic trait forms information becomes available contexts and used to predict and a bell curve. ● Account for the effects of genes and explain events in new contexts. o Examples of these traits would be eye environment on phenotype outcomes Scale, Proportion, and color, skin color, body weight, heart ● Contrast continuous traits with discontinuous Quantity health and height. traits and explain the population graphs for Algebraic thinking is used to ● To predict the chance that a multifactorial each based on the factors influencing examine scientific data and predict trait will occur in a particular individual, phenotype outcome the effect of a change in one geneticists use empiric risks, which are based ● Calculate empiric risk and hereditability variable on another (e.g., linear on incidence in a specific population. based on prevalence in a population and growth vs. exponential growth). o Empiric risk increases with the inherited genes severity of the disorder, the number of ● Interpret past/historical evidence gathered by affected family members, and how genetic researchers to make or support claims closely related a person is to affected about our current understanding of individuals. multifactorial and behavioral genetics ● Heritability estimates the proportion of ● Design hypothetical adoptive studies and twin variation in a multifactorial trait that is studies to investigate the relative influences attributable to genetics. of genes and environment on phenotype o Heritability equals 1.0 for a trait that outcome is completely the result of gene action Practices and 0 if it is entirely caused by ❖ Engaging in Argument from Evidence environmental influences. Most traits Make and defend a claim based on evidence about lie in between. the natural world that reflects scientific o Heritability changes as the knowledge, and student-generated evidence. environment changes. ❖ Analyzing and Interpreting Data ● Characteristics shared by adopted people and Analyze data using computational models in order their biological parents are mostly inherited to make valid and reliable scientific claims whereas similarities between adoptive people

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and their adoptive parents reflect environmental influences. o Adoptive studies and twin studies are ways in which geneticists can look at how traits are inherited and how the environment influences expression. ● Studies have shown that behavioral traits are multifactorial with heritability anywhere between .40 and .80. o Examples: eating disorders, sleep behavior, intelligence, drug addiction, schizophrenia

Key Terms: empiric risk, heritability, multifactorial, polygenic, schizophrenia, anorexia nervosa, bulimia,

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Unit 3: Medical Genetics Unit

ENDURING UNDERSTANDINGS ESSENTIAL QUESTIONS ✓ Mutations cause errors in protein function. ✓ How do mutations in DNA cause diseases? ✓ Mutation is the underlying cause for genetic disorders that can be ✓ How does a mutation affect multiple generations? passed from parent to child. ✓ Are all mutations bad?

CROSSCUTTING KNOWLEDGE SKILLS/PRACTICES CONCEPTS: NGSS Students will know: Students will be able to: Students will be able to apply: Skills Scale, Proportion, and HS-LS3-1 Chromosomes and Gene Mutation ● Collect and analyze data to develop Quantity HS-LS3-2 explanations Algebraic thinking is used to HS-LS3-3 ● Mutation is a change in a gene’s nucleotide base ● Work collaboratively examine scientific data and sequence. ● Practice lab safety predict the effect of a change in ● Germline mutation originates in meiosis and ● Use models to represent a microscopic one variable on another (e.g., affects all cells of an individual where a somatic process at the macroscopic scale and linear growth vs. exponential mutation originates in mitosis and affects a subset develop explanations growth). of cells. ● Change and update existing models as Cause and effect: ● Spontaneous mutation arises due to chemical new information becomes available Mechanism and explanation. phenomena (mutagens) or due to an error in DNA ● Interpret past/historical evidence Events have causes, replication. Induced Mutations result from any gathered by genetic researchers to make sometimes simple, sometimes artificial factor. or support claims about our current multifaceted. A major activity o Rate of mutation varies depending on the understanding of chromosomes and of science is investigating and organism and whether or not it is somatic gene mutation explaining causal or gametic. It also depends on : ● Predict the potential impact on an relationships and the ▪ Size of gene organism given a change in a specific mechanisms by which they ▪ Nucleotide sequence (repeats): DNA code, and provide specific real are mediated. Such usually the more nucleotide repeats mechanisms can then be

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that are seen the more likely you are world examples of conditions caused by tested across given contexts to have a specific mutation. mutations. and used to predict and ▪ Spontaneous chemical changes ● Assess personal risk for mutations explain events in new o Base Analogs (mutagenic chemicals) can considering spontaneous mutations, contexts. substitute for purines or pyrimidines during environmental sources of exposure to nucleic acid biosynthesis. mutagens, and personal choices leading o Alkylating Agents are chemical mutagens to increased radiation exposure that donate an alkyl group such as CH3 or ● Apply understanding of gene mutation CH3CH2 to amino or keto groups in to authentic scenarios nucleotides. Practices o Intercalating Agents can inhibit DNA ❖ Analyzing and Interpreting Data replication by inducing structural Analyze data using computational models in distortions. order to make valid and reliable scientific o High energy radiation includes X rays, claims gamma rays, and cosmic rays and tends to ❖ Engaging in Argument from have shorter wavelengths than UV Evidence radiation so they are therefore more Make and defend a claim based on evidence energetic and strong enough to penetrate about the natural world that reflects scientific deeply into tissues. knowledge, and student-generated evidence. o Radon is a source of radiation commonly ❖ Asking Questions and defining found in people’s homes. problems o UV radiation & Pyrimadine Dimers: UV Ask questions that arise from examining radiation is mutagenic and has an effect on models or a theory to clarify relationships. pyrimadine dimer, particularly between two thymine residues. This distorts DNA conformation and inhibits normal replication. o Somatic Mutation is any mutation that affects any body cell and is usually not passed on to the next generation.

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o Gametic Mutation is a mutation that if found in the sex cells (sperm and egg) and can be passed down to the next generation. ● Inserting, deleting, or substituting DNA segments can alter the genetic code and the resulting proteins. This resulting feature may help, harm, or have little effect on the offspring’s success in the environment. o These include point mutations. Point mutations can be either substitutions in which one DNA base pair is substitute for another. This usually results in coding for a different amino acid which in turn will either stop the translation of the protein or create a different protein. o Frameshift mutations occur when you either add or delete a DNA base pair. This will throw off the entire reading frame of DNA and will again either stop the creation of the protein or create a totally different protein than coded for. ● Chromosomes consist of DNA and proteins. Essential parts are the telomeres, centromeres, and origin of replication sites. o Chromosomes are distinguishable by size and centromere position and can be seen on a karyotype. o Deletions and/or duplications of chromosomes are considered mutations as well and include translocations and inversions.

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o A Karyotype is a chart that displays chromosome pairs in size order. It can be used to determine whether or not a person carriers a chromosomal mutation or it can be used to do some basic genetic testing before a couple decides to start a family. ● During DNA replication there are checkpoints which are in place to make sure that it has replicated correctly and that there are no mutations. This is called DNA proofreading. There is a DNA damage checkpoint during the S phase of mitosis. There is a 2nd one during G2 phase called the apoptosis checkpoint. Lastly there is a spindle assembly checkpoint during mitosis. ● If there is an issue with the DNA there are repair mechanisms that can correct the mistake before moving on. o Photoreactivation repair used light energy to split pyrimidine dimers that may kink the DNA o In Excision repair, pyrimidine dimers are removed and the area is filled in correctly. ▪ Nucleotide excision repair replaces up to 30 nucleotides from various sources of mutation ▪ Base excision repair fixes up to five bases that paired incorrectly due to oxidative damage. o Mismatch repair proofreads newly replicated DNA for loops that indicate noncomplementary base pairing.

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Key Terms: Mismatch repair, base excision repair, nucleotide excision repair, Photoreactivation repair, karyotype, point mutation, frameshift mutation, somatic mutation, gametic mutation, mutation, mutagens

HS-LS3-2 Skills Cause and effect: Genetics of Cancer ● Collect and analyze data to develop Mechanism and explanation. explanations Events have causes, ● Cancer is the uncontrolled or transformed cell ● Work collaboratively sometimes simple, sometimes growth (as opposed to steady-state replacement of ● Practice lab safety multifaceted. A major activity cells), usually accompanied by de-differentiation. ● Use models to represent a microscopic of science is investigating and ● Evidence that cancer is genetic: process at the macroscopic scale and explaining causal o Most mutagens cause cancer, implying develop explanations relationships and the DNA alterations ● Interpret past/historical evidence mechanisms by which they o Increased risk in relatives of cancer gathered by genetic researchers to make are mediated. Such patients or support claims about our current mechanisms can then be o Twin studies have revealed a genetic link understanding of cancer tested across given contexts o Familial forms of cancer make up 1% of all ● Change and update existing models as and used to predict and cancers new information becomes available explain events in new o Some cancer-causing mutations occur in ● Make arguments based on available data contexts. germ cells and are inherited from parent to and evidence that there is a genetic basis offspring to cancer ● Cancer cells are different from normal cells in that ● Apply understanding of cancer genetics they have loss of contact inhibition, invasiveness, to authentic scenarios uncontrolled cell division, increased mutation rate, Practices ability to spread (metastasis), ability to induce ❖ Engaging in Argument from local blood vessel formation (angiogenesis) Evidence immortalization, and de-differentiation 36

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o Loss of contact inhibition allows cancer Make and defend a claim based on evidence cells to continue to grow all over one about the natural world that reflects scientific another and do not stop dividing when they knowledge, and student-generated evidence. crowd other cells. o Dedifferentiation means that cancer cells are less specialized than the normal cell type they arose from. o Cancer cells are said to immortal for they do not have an intended time to “die” which makes them even more likely to replicate uncontrollably and create more cancerous cells. ● There are two main types of genetic mutations that form tumors, whether they are benign (non- cancerous) or malignant (cancerous). These include mutations in proto-oncogenes and tumor suppressor genes. o Genes that normally trigger cell division are called proto-oncogenes. They are active when and where high rates of cell division are required. If there is a mutation in this particular gene (point mutations, chromosomal translocations or inversions) which causes it to turn on at the wrong time or place they begin to function as oncogenes. o Tumor suppressor genes are genes that are supposed to inhibit tumor formation. When there is a mutation (typically a deletion which removes a function) in one of these genes tumor suppression is absent.

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● Cancer associated with a mutated proto-oncogene would be Burkitt’s lymphomas. o Found to be common in Africa a tumor develops from the lymph glands near the jaw. It seems people who are infected with Epstein-Barr virus, stimulates specific chromosomal movement in maturing B cells in order for the immune system to fight the virus. o Because of this translocation a proto- oncogene on chromosome 8 is placed closely to an antibody gene on chromosome 14. The oncogene is in turn over expressed in order to fight the virus and cell division rates increase. This begins to cause a tumor in lymph tissue. ● Two cancers that are associated with tumor suppressor genes would be retinoblastoma and breast cancer. o Retinoblastoma is a cancer of the eye that affects young children. It seems to be inherited through generations but there are some sporadic cases as well. o Retinoblastoma follows the “two hit hypothesis” which states that it takes more than one mutation in order for cancer to develop. One half of the children inherit susceptibility to the disorder which means they have one germline mutant allele for RB in each of their cells. Only when they get the second mutant allele in their

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somatic cells will cancer prevail. Therefore inherited retinoblastoma requires two point mutations or deletions to become an issue. o Familial breast cancers (BRCA genes) are highly penetrant and inherited as autosomal dominants. In families with multiple affected members who developed the disease at an early age, if a woman carries the BRAC gene they have an 80% chance of developing breast cancer by the age of 70. ▪ The BRAC1 gene has been found on chromosome 17 and has been linked to breast cancer and ovarian cancer in females. BRAC1 accounts for 40-50% of familial breast cancer. ▪ The BRAC2 gene has been found on chromosome 13 and has been linked to breast cancer in both males and females. BRAC2 accounts for 20-30% of familial breast cancer. o p53 is a much more general tumor suppressor gene and accounts for 50% of all cancers. Its function is normally as a transcription factor, helps regulate the cell cycle, stimulates DNA repair machinery, and used for programmed cell death. ▪ If p53 is knocked out the following will take place and could possibly

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lead to tumor formation: damaged cells would not undergo programmed cell death or damaged DNA might not be repaired and this may lead to aberrant cell growth.

Key Terms: proto-oncogene, tumor suppressor gene, oncogene, dedifferentiation, metastasis, immortalization, angiogenesis, cancer, mutagens, benign, malignant HS-LS3-1 Skills Scale, Proportion, and HS-LS3-2 Autosomal Dominant Disorders ● Collect and analyze data to develop Quantity HS-LS3-3 explanations Algebraic thinking is used to ● In a pedigree analysis for autosomal dominant ● Work collaboratively examine scientific data and disorders one would see the following ● Practice lab safety predict the effect of a change in characteristics: ● Use models to represent a microscopic one variable on another (e.g., o Because you only need one copy of the process at the macroscopic scale and linear growth vs. exponential allele to express the trait these types of develop explanations growth). disorders are passed down in every ● Change and update existing models as Cause and effect: generation. new information becomes available Mechanism and explanation. o There are no carriers; all heterozygotes ● Use probability laws (Punnett Squares) Events have causes, have the trait/disease. to make predictions and solve sometimes simple, sometimes o Frequency of homozygote dominant inheritance word problems multifaceted. A major activity offspring is extremely rare because most ● Given a genotype, determine phenotype of science is investigating and are lethal. ● Given a phenotype, determine genotype explaining causal o There is no male/female bias in ● Apply understanding of inheritance to relationships and the segregation. authentic situations mechanisms by which they ● Autosomal dominant disorders include Porphyria ● Read and decipher inheritance patterns are mediated. Such variegata, Achondroplasia, Huntington’s Chorea, based on a pedigree mechanisms can then be Hereditary Hemorrhage Telangiectasia, and Practices tested across given contexts Apert’s Syndrome. ❖ Analyzing and Interpreting Data and used to predict and

Hillside Township School District o Porphyria variegata is a disorder that alters Analyze data using computational models in explain events in new the structure of porphyrins, an iron order to make valid and reliable scientific contexts. containing molecule that is an important claims part of hemoglobin. The malformed heme ❖ Engaging in Argument from ring leads to porphyria variegata. Evidence o Achondroplasia is also commonly called Make and defend a claim based on evidence dwarfism. Persons with achondroplasia about the natural world that reflects scientific usually have a heterozygous genotype knowledge, and student-generated evidence. (Aa). Babies who are homozygous ❖ Asking Questions and defining dominant (AA) tend not to survive in utero. problems ▪ In affected individuals the mutation Ask questions that arise from examining causes the epiphyses of the bones to models or a theory to clarify relationships. close up at an early age because cartilage is not laid down correctly. ▪ Affected persons’ have domed heads, small face, shortening of the limbs, and a relatively long trunk. o Apert’s syndrome is a dominant disorder that has no familial component and can only be received by spontaneous mutation. ▪ Because the DNA in sperm have undergone more replication cycles than has the DNA in ova, one might expect point mutations are more often paternal rather than maternal in origin. Apert’s is one of those disorders. o Huntington’s chorea or Huntington’s disease is considered an autosomal dominant disorder but there are peculiarities in its inheritance pattern.

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▪ Disease is passed from generation to generation with a 50% risk to each offspring but there other contributions to this disorder. This HD mutation is composed of an abnormally long expansion of a stretch of the nucleotides CAG in exon 1, the codon specifying the amino acid glutamine. ▪ Normal individuals have anywhere between 9 and 35 CAG repeats with the average being 18-19. Individuals with 40 or more are affected with HD and the average age of onset is around 46. ▪ With HD there seems to be genetic anticipation which leads to early onset HD. As the mutant allele passes through the pedigree, the number of CAG repeats increases (may be due to expansion of repeats on transmission) causing persons to begin developing symptoms sometimes as early as adolescences. o Hereditary Hemorrhage Telangiectasia (HHT) is a dominant disorder that is phenotypically different at the heterozygote and homozygote level. In this case the homozygous dominant genotype will present with a much more severe phenotype.

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Key Terms: porphyrins, neuropathy, telangiectases, anemia, syndactyly, crainosynostosis HS-LS3-1 Skills Scale, Proportion, and HS-LS3-2 Autosomal Recessive Disorders ● Collect and analyze data to develop Quantity HS-LS3-3 explanations Algebraic thinking is used to ● In a pedigree analysis for an autosomal recessive ● Work collaboratively examine scientific data and trait one would see the following characteristics: ● Practice lab safety predict the effect of a change in o Heterozygotes are usually unaffected ● Use models to represent a microscopic one variable on another (e.g., clinically. process at the macroscopic scale and linear growth vs. exponential o An individual manifesting a recessive develop explanations growth). disorder usually has heterozygous parents. ● Change and update existing models as Cause and effect: o There is a 25% chance of heterozygotes new information becomes available Mechanism and explanation. having an affected child with a 75% they ● Use probability laws (Punnett Squares) Events have causes, will normal. to make predictions and solve sometimes simple, sometimes o In random mating the probability is low of inheritance word problems. multifaceted. A major activity two recessive heterozygotes coming ● Given a genotype, ability to determine of science is investigating and together. phenotype. explaining causal o There tends not to be sex discrimination in ● Given a phenotype, ability to determine relationships and the these types of disorders meaning both genotype. mechanisms by which they males and females can acquire them ● Apply understanding of inheritance to are mediated. Such equally. authentic situations mechanisms can then be o A homozygote recessive will always pass ● Read and decipher inheritance patterns tested across given contexts the mutant gene to their children. based on a pedigree and used to predict and o Inbreeding leads to increased likelihood of ● Use Hardy Weinberg Equilibrium to explain events in new matings between heterozygotes which calculate frequency of heterozygotes contexts. increase chances of specific traits in that ● Use mathematical calculations to particular family. determine the increase of a disease/trait ● Metabolic abnormalities are common in recessive in a consanguineous mating disorders and some treatments have been devised Practices to help. ❖ Analyzing and Interpreting Data

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● Autosomal Recessive disorders include Gaucher Analyze data using computational models in Disease, Albinism, Tay Sach’s disease, Cystic order to make valid and reliable scientific fibrosis, PKU and thalassemia. claims o Gaucher disease is a disease that affects the ❖ Engaging in Argument from storage of fats in the body. A fatty Evidence molecule called glucocerebroside is Make and defend a claim based on evidence normally broken down in the body by the about the natural world that reflects scientific enzyme glucocerebrosidase. knowledge, and student-generated evidence. ▪ A mutation in the gene for the ❖ Asking Questions and defining enzyme glucocerebrosidase causes problems the enzyme to be less active. Ask questions that arise from examining Because of this the fat accumulates models or a theory to clarify relationships. in the spleen, liver, and bone marrow. o Albinism is a pigment disorder in which individuals lack melanin in their cells. It is characterized by lack of pigment in the skin, hair, and eyes. Individuals also experience light sensitivity and their skin is extremely sensitive to the sun. ▪ The heterozygote makes enough melanin that skin discoloration isn’t an issue but in the homozygote (aa) there is two alleles that code for lysine instead of thyrosine which in turn prevents the DOPA from being formed so the pathway to melanin production is disrupted (found on chromosome 2). o PKU (Phenylketonuria) is an inherited disorder which is caused by a mutation

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along the same metabolic pathway as Albinism. It is tested for in babies immediately after they are born. ▪ Because there is a loss of function mutation in the pathway, the enzyme phenylalanine hydroxylase is deficient and phenylalanine cannot be converted to the amino acid tyrosine. This causes phenylalanine to build up not only in the liver but in the cerebrospinal fluid as well. If not detected in time it may cause mental retardation. o Tay Sach’s disease is lysosomal storage disease with a problem in the gangliosides (concentrated on the cell surface of many brain regions and are important as receptors for glycoprotein hormones, cell- cell interaction, and cell differentiation) of the membranes of the brain. ▪ Individuals who are homozygous for this disease do not have the enzymes in their lysosomes (hexosaminidase A) to break down the gangliosides when they get worn out and shipped to be destroyed by the lysosomes. o Cystic fibrosis is one of the most studied recessively inherited disorders today. ▪ Most common among white children, about 1 in every 2000 has

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two mutant CFTR (cystic fibrosis transmembrane conductance regulator) alleles and exhibits the disorder. The frequency of carriers can be calculated to be approximately 1 in 29 individuals. ▪ CFTR is cAMP-regulated chloride channel that regulates other ion channels, and maintains the hydration of secretions within airways and ducts through the transport of chloride and inhibition of sodium uptake. ▪ Can affect many different organs including those that secrete mucus, including the upper and lower respiratory tract, pancreas, intestinal tract, sweat glands and male genital. o Thalassemia is a protein deficiency where either the alpha chain or the beta chain of the hemoglobin molecule is not made in the homozygous recessive. There are four different phenotypes associated with alpha thalassemia. Carriers are mostly from Middle East, southern Europe and some parts of South East Asia. Mutation is located on chromosome 16 and comes about because of a cis-deletion. o Beta thalassemia is due to a mutation on chromosome 11 in the HBB gene.

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▪ β-thalassemia trait is inherited when a single β-globin gene is mutated. Individuals who suffer from this experience anemia, mild overproduction of RBC and enlargement of the spleen and liver

Key Terms: anemia, infantile, juvenile, hemolytic, jaundice, gangliosides, optic atrophy, consanguineous HS-LS3-1 ● Collect and analyze data to develop Scale, Proportion, and HS-LS3-2 X-Linked Disorders explanations Quantity HS-LS3-3 ● Work collaboratively Algebraic thinking is used to ● Sexual dimorphism of chromosomal type (male: ● Practice lab safety examine scientific data and XY and female: XX) can cause some congenital ● Use models to represent a microscopic predict the effect of a change in diseases to be passed down to offspring in an process at the macroscopic scale and one variable on another (e.g., unequal manner. develop explanations linear growth vs. exponential ● Sex-linked diseases fall into two categories: X- ● Change and update existing models as growth). linked and Y-linked new information becomes available Cause and effect: o Y-linked traits can be recognized in a ● Use probability laws (Punnett Squares) Mechanism and explanation. pedigree because females never get the trait, to make predictions and solve Events have causes, fathers who have the trait always pass it inheritance word problems. sometimes simple, sometimes down to their sons and sons always pass it ● Given a genotype, ability to determine multifaceted. A major activity to their sons. Example would be Hirsute phenotype. of science is investigating and pinnae which is hairy ear rims. ● Given a phenotype, ability to determine explaining causal o There are a number of genes on the Y genotype. relationships and the chromosome and most of the congenital ● Apply understanding of inheritance to mechanisms by which they diseases that are linked to the Y authentic situations. are mediated. Such chromosome cause malformations in the ● Read and decipher inheritance patterns mechanisms can then be morphology or function of the testes. based on a pedigree. tested across given contexts ● X-linked recessive traits are represented by the Practices and used to predict and following characteristics in a pedigree: ❖ Analyzing and Interpreting Data

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o Most affected individuals are males Analyze data using computational models in explain events in new o Affected males result from mothers known order to make valid and reliable scientific contexts. to be carriers claims Patterns o Affected females come from an affected ❖ Engaging in Argument from Different patterns may be father and a mother who was either Evidence observed at each of the scales affected or a carrier of the trait Make and defend a claim based on evidence at which a system is studied o Sons of affected mothers must be affected about the natural world that reflects scientific and can provide evidence for o Has a pattern of skipping generations knowledge, and student-generated evidence. causality in explanations of o Approximately ½ of the sons of a carrier ❖ Asking Questions and defining phenomena. female should be affected problems ● X-linked recessive disorders include Hemophilia, Ask questions that arise from examining Colorblindness, G6PD, Menkes disease, and models or a theory to clarify relationships. Duchenne Muscular Dystrophy ● Hemophilia is an X-linked disorder of coagulation caused by mutations in the F8 and F9 genes. The more common is Hemophilia A which causes deficiency and or dysfunction of clotting factor VIII. o Hemophilia is a good example to show gene frequency of X-linked recessive disorders. o Mutations of F8 include deletions, insertions, inversions and point mutations with the most common mutation being inversion. o Even with X-inactivation, females who exhibit the genotype XHXh have enough wild type cells that produce blood clotting factors and never show any clinical features of the disease.

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o Treatment with factor replacement therapy can increase life span to 65 years of age. Gene therapy trials are showing promise but have not been release to public as of yet. ● Colorblindness also known as red-green colorblindness is caused by mutations in the series of red and green visual pigment genes. This disorder is not detrimental but can affect things such as night driving. o About 8% of males in the U.S. suffer from colorblindness. o A rare form of blue colorblindness is inherited as an autosomal dominant condition that maps to chromosome 7. ● Duchenne Muscular Dystrophy is the most common form of muscular dystrophy; it affects 1 in 3500 males and occurs between ages of 1 and 6. o Gene is located at Xp21, a region in the middle of the short arm of the X chromosome. It encodes for a protein called dystrophin. When dystrophin is absent or defective, the plasma membranes gradually breakdown, causing death of muscle tissue. ● Menkes’ Disease is an inborn error of metabolism that markedly decreases the cells’ ability to absorb copper. Abnormalities of the golgi are responsible for this disease. o Disorder causes severe cerebral degeneration and arterial changes because

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suffers cannot transport copper needed by enzymes involved in making bone, nerve and other structures. ● G6PD (Glucose-6-Phosphate Dehydrogenase) Deficiency is one of the most common enzyme defect known in humans. o Normally G6PD is needed to generate NADPH in metabolism→NADPH is also needed to make a compound called glutathione→which is used to detoxify oxidants. o When G6PD activity is reduced or absent there is a high concentration of peroxides in the blood which causes red blood cells to break down, producing life threatening anemia. o The unusual thing about G6PD gene is that males who are hemizygous for the disease are prone to all blood cells lysing but even female carriers are prone to hemolysis. ▪ This is due to X-inactivation which enables a female to have up to 50% of her blood cells carrying the mutant G6PD gene. ● X-linked dominant traits are represented by the following characteristics in a pedigree: o Males and females will both be affected o Heterozygote affected females will pass on trait to half of all their offspring

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o Affected males will only pass the trait on to all female offspring but no male to male transmission o Trait generally does not skip generations o Sometimes difficult to tell apart from an autosomal dominant trait. ● X-linked dominant disorders include Dentinogenesis imperfecta, Darier’s disease, and Fragile X syndrome. ● Dentinogenesis imperfecta is one of the few dominant sex linked disorders where enamel is not deposited on the teeth correctly. o Teeth have small roots and root canals and people affected tend to have increase in bone fractures. ● Darier’s disease is characterized by keratosis follicularis which is dark crusted patches sometimes containing pus. Usually seen in the tissues of the sternum and face; nails tend to be fragile and split easily. Sexual dimorphism comes into play with Darier’s disease. o Mutation is in the Serca2 gene and this gene normally acts as a calcium ion pump in keratinocyte cells. If calcium is not pumped keratinocytes do not make keratin. ● Fragile X syndrome is caused by a mutation in the FMR1 gene and is seen in approximately 1 in every 5000 births. This is not a simple disease genetically. o FMR1 protein is normally a chaperone protein molecule which helps move a type

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of mRNA from the nucleus to be translated. o Full mutation presents when there is over 200 CGG repeats o FMRP is a chaperone that moves mRNA that codes for neural development. Since the mRNA molecules are not in place the neuron cannot communicate the way it should and hence you end up with the phenotype of mental retardation.

Key Terms: Keratinocytes, keratosis follicularis, coagulation, hemizygous, oxidants HS-LS3-1 Skills Scale, Proportion, and HS-LS3-2 Sex Determination Disorders/Chromosomal Disorders ● Collect and analyze data to develop Quantity HS-LS3-3 explanations Algebraic thinking is used to ● The default pattern for human sexual morphology ● Work collaboratively examine scientific data and is the female - gonads are bipotential or ● Practice lab safety predict the effect of a change in indifferent. ● Use models to represent a microscopic one variable on another (e.g., ● Male morphological pattern must be induced; it process at the macroscopic scale and linear growth vs. exponential does not come naturally; the key to developmental develop explanations growth). events is the presence or absence of a Y ● Change and update existing models as Cause and effect: chromosome. new information becomes available Mechanism and explanation. ● When mutation occurs with sex determination the ● Given a genotype, ability to determine Events have causes, following disorders can be present: phenotype. sometimes simple, sometimes o True hermaphrodite ● Given a phenotype, ability to determine multifaceted. A major activity o Male pseudohermaphrodite genotype. of science is investigating and o Female pseudohermaphrodite ● Apply understanding of inheritance to explaining causal o Sex reversal authentic situations. relationships and the ● True hermaphrodites contain gonads of both ● Read and decipher inheritance patterns mechanisms by which they genders and are extremely rare. based on a pedigree. are mediated. Such

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Pseudohermaphrodism is seen more in the general Practices mechanisms can then be population. ❖ Analyzing and Interpreting Data tested across given contexts ● Male Pseudohermaphrodism (46XY) (Complete Analyze data using computational models in and used to predict and androgen insensitivity syndrome; testicular order to make valid and reliable scientific explain events in new feminization); most severe form presents in 1 in claims contexts. 20,000 births and has a phenotype of female body ❖ Engaging in Argument from Patterns shape, large breasts with juvenile nipples, absent Evidence Different patterns may be or scanty auxiliary pubic hair, female external Make and defend a claim based on evidence observed at each of the scales genitalia with blind-ending vagina, absent or about the natural world that reflects scientific at which a system is studied rudimentary internal genitalia/gonads, testes knowledge, and student-generated evidence. and can provide evidence for produce androgen without affect. ❖ Asking Questions and defining causality in explanations of o 5-α-reductase deficiency and Swyer’s problems phenomena. Syndrome are other forms of male Ask questions that arise from examining pseudohermaphrodism. models or a theory to clarify relationships. ● Female Pseudohermaphrodism (46XX) caused by congenital adrenal hyperplasia which has a frequency of 1 in 12,500 presents with high levels of androgens, virilization of female external genitalia, clitoral enlargement, labial fusion leading to a “scrotal-like” structure. o In pseudohermaphrodites there are high levels of androgens caused by defects in cortisol production in the adrenal glands. There is usually a deficiency of 21- hydroxylase; this deficiency blocks cortisol production and causes increase in androgen production, hence giving the genotype XX but presenting like a male. ● Gonadal maldevelopment or sex reversal is also a sex determination disorder.

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o Sex reversed males are genetically 46 XX, but they look phenotypically male. They actually harbor a tiny piece of the Y chromosome that contains the SRY gene. They develop as sterile males. o Sex reversed females are genetically 46 XY, but they look phenotypically female. Ovarian development occurs but they are sterile. SRY is usually deleted or mutated so they develop as a female. ▪ Camptomelic dysplasia, Denys- Drash Syndrome and 9p deletion syndrome are all types of female sex reversal. ● Chromosomal nondisjunction is defined as uneven distribution of homologous chromosomes during meiosis. Nondisjunction can take place with the sex chromosomes or with autosomal chromosomes. ● Chromosomal nondisjunction associated with the sex chromosomes includes Klinefelter’s Syndrome (47 XXY), Turner Syndrome (45XO), Trisomy X (47 XXX) and Supermale Syndrome (47 XYY). ● Chromosomal nondisjunction associated with autosomal chromosomes includes Down Syndrome (trisomy 21), Edwards Syndrome (trisomy 18), and Patau Syndrome (trisomy 13).

Key Terms: hermaphrodite, pseudohermaphrodite, dysplasia, nondisjunction, trisomy, virilization, congenital

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Unit 4: Genetic Technology Unit

ENDURING UNDERSTANDINGS ESSENTIAL QUESTIONS ✓ Biotechnology has made it possible to utilize the same ✓ How has technology changed the study, research, and medical practice genetic code because all organisms use DNA. associated with genetics? ✓ Technological advances have made it possible to treat certain genetic disorders and help infertile couples reproduce.

KNOWLEDGE SKILLS/PRACTICES CROSSCUTTING CONCEPTS: NGSS Students will know: Students will be able to: Students will be able to apply: HS-LS3-2 Skills Cause and effect: Genetically Modified Organisms ● Collect and analyze data to develop Mechanism and explanation. Events explanations have causes, sometimes simple, ● Biotechnology is the alteration of cells or ● Work collaboratively sometimes multifaceted. A major biochemicals to provide a useful product. It ● Practice lab safety activity of science is investigating includes extracting natural products, altering an ● Use models to represent a microscopic and explaining causal relationships organism’s genetic material, and combining process at the macroscopic scale and and the mechanisms by which they DNA from different species. develop explanations are mediated. Such mechanisms can ● A transgenic organism has DNA form a ● Change and update existing models as then be tested across given contexts different species in its genome. DNA from two new information becomes available and used to predict and explain sources is considered recombinant. ● Use laboratory protocols to introduce a events in new contexts. ● Recombinant DNA technology is possible new gene into a microorganism because of the universality of the genetic code. ● Use evidence to create arguments about This technology has matured into a valuable the benefits and risks associated with method to produce useful proteins. the creation of genetically modified o Constructing a recombinant DNA organisms molecule begins when restriction ● Apply understanding of GMOs to enzymes cut both the gene of interest authentic scenarios and a cloning vector at a short Practices palindromic sequence, creating ❖ Analyzing and Interpreting Data complimentary “sticky ends.”

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o The cut foreign DNA and vector DNA Analyze data using computational models in are mixed and vectors that pick up order to make valid and reliable scientific foreign DNA are selected. claims ● For a multicellular transgenic organism, a ❖ Engaging in Argument from single cell (a gamete in an animal or plant, or a Evidence somatic cell in a plant) or early embryo cells Make and defend a claim based on evidence are genetically altered. The organism about the natural world that reflects develops, including the change in each cell and scientific knowledge, and student-generated passing it to the next generation. evidence. o Heterozygotes for the transgene are then breed to yield homozygotes. ● Recombinant technology is used to make drugs, textiles, wood products, food and also used in the process of bioremediation. ● Gene targeting uses the natural attraction of a DNA sequence for its complementary sequence called homologous recombination, to swap one gene for another; it is more precise than transgenic technology. o Manipulation is done on an ES cell, which is then inserted into another embryo and transferred to a surrogate mother. ● Knockouts have the gene of interest that is inactive. Knockins replace one gene with another allele that will alter function.

Key Terms: biotechnology, transgenic, recombinant DNA technology, restriction enzymes, cloning vector, gene targeting, homologous recombination

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HS-LS3-2 Skills Cause and effect: Gene Therapy, Genetic Testing and Genetic ● Collect and analyze data to develop Mechanism and explanation. Events Counseling explanations have causes, sometimes simple, ● Work collaboratively sometimes multifaceted. A major ● Recombinant DNA technology has made it ● Practice lab safety activity of science is investigating possible to diagnosis genetic disorders and to ● Use models to represent a microscopic and explaining causal relationships treat them by transferring normal copies of process at the macroscopic scale and and the mechanisms by which they genes into cells that carry defective copies. develop explanations are mediated. Such mechanisms can ● Gene therapy delivers new genes and ● Change and update existing models as then be tested across given contexts encourages production of a needed substance at new information becomes available and used to predict and explain appropriate times and in therapeutic amounts. ● Evaluate and compare vectors used for events in new contexts. ● Several types of vectors are used in gene gene therapy therapy, including liposomes and viral ● Use evidence to create arguments about genomes. the benefits and risks associated with o Ex vivo gene therapy is applied to the gene therapy cells outside the body that are then ● Apply understanding of gene therapy to reimplanted or reinfused into the authentic scenarios patient. Practices o In situ gene therapy occurs directly on ❖ Analyzing and Interpreting Data accessible body parts. Analyze data using computational models in o In vivo gene therapy is applied in the order to make valid and reliable scientific body. claims ● Right now gene therapy uses somatic cell ❖ Engaging in Argument from therapy; gene transfer involves only the target Evidence tissue and only one person is treated. Make and defend a claim based on evidence o Sites for gene therapy include lungs, about the natural world that reflects skin, liver, muscle, brain, blood, scientific knowledge, and student-generated endothelium, bone marrow. evidence. ● There are ethical issues concerning germ-line therapy and enhancement gene therapy.

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● Gene therapy was first successful in treating adenosine deaminase (ADA) in 1990. There have been set backs in gene therapy over the years but gene therapy has a remarkable safety record and researchers are working continuously to achieve advances in this area of genetics. ● Genetic testing is available to see if a person carries a specific genotype or if they are a carrier of a defective gene that could be passed on to the next generation. o Prenatal testing and presymptomatic testing include amniocentesis, chorionic villus sampling, ultarsonography, and fetoscopy. Prenatal screening can also detect chromosome abnormalities, such as Down syndrome, and birth defects such as spina bifida. o Presymptomatic screening tests for the onset of disease later in life. Recombinant DNA methods are used to identify those who may develop things like Huntington disease or polycystic kidney disease. ● Genetic counseling provides information on inheritance patterns, disease risks and symptoms, and available tests and treatments. o Most times genetic counseling is used for couples who are planning to get pregnant, couples who may already have a child with a genetic abnormality,

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couples who are first cousins or close blood relatives, etc.

Key Terms: gene therapy, ex vivo gene therapy, in situ gene therapy, in vivo therapy, somatic cell therapy, amniocentesis, chorionic villus sampling, fetoscopy, ultrasonography, HS-LS3-2 Skills Cause and effect: Reproductive Technologies ● Collect and analyze data to develop Mechanism and explanation. Events explanations have causes, sometimes simple, ● Infertility is the inability to conceive a child ● Work collaboratively sometimes multifaceted. A major after a year of unprotected intercourse. ● Practice lab safety activity of science is investigating o In males, infertility can be due to ● Use models to represent a microscopic and explaining causal relationships low sperm count, a malfunctioning process at the macroscopic scale and and the mechanisms by which they immune system, a varicose vein in develop explanations are mediated. Such mechanisms can the scrotum, structural sperm ● Change and update existing models as then be tested across given contexts defects, drug exposure and abnormal new information becomes available and used to predict and explain hormone levels. ● Evaluate and compare currently events in new contexts. o In females, infertility can be due to available reproductive technologies absent or irregular ovulation, ● Use evidence to create arguments about blocked fallopian tubes, an the relative benefits and risks of inhospitable uterus, antisperm reproductive technologies secretions or lack of sperm-attracting ● Apply understanding of reproductive biochemicals. technologies to authentic scenarios ● There are different types of reproductive Practices techniques that can be used to help an ❖ Analyzing and Interpreting Data infertile couple become pregnant. Analyze data using computational models in Depending on the situation the following order to make valid and reliable scientific procedures are used: claims o Intrauterine insemination: sperm are ❖ Engaging in Argument from obtained from a donor and Evidence

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introduced into a woman’s Make and defend a claim based on evidence reproductive tract. about the natural world that reflects o Surrogate mother: a woman offers scientific knowledge, and student-generated her uterus to couple that cannot get evidence. pregnant. The egg and sperm are ❖ Obtaining, Evaluating, and from the couple so the child is Communicating Information- genetically theirs. This is called an in Evaluate the validity and reliability of the vitro surrogate. A genetic surrogate claims, methods, and designs. gives her egg as well and it is fertilized with the sperm of the unfortunate couple. o In vitro fertilization (IVF): sperm and egg from an infertile couple is brought together in a petri dish and allowed to divide a few times before the embryos are placed in woman’s uterus. o GIFT (gamete intrafallopian transfer) is a procedure that allows a man’s sperm and a woman oocyte to be introduced into the woman’s fallopian tube, past a blockage, in order for fertilization to occur naturally in the body. o ZIFT (zygote intrafallopian transfer) is similar to GIFT but instead a fertilized egg is placed into the fallopian tube and allowed to migrate to the uterus for transplantation.

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Key Terms: Surrogate, ZIFT, GIFT, in vitro, intrauterine insemination, infertility, subfertility.

HS-LS3-1 Skills Cause and effect: HS-LS3-2 The Age of Genomics ● Collect and analyze data to develop Mechanism and explanation. Events explanations have causes, sometimes simple, ● Genomics is the study of genomes, ● Work collaboratively sometimes multifaceted. A major including nucleotide sequence, gene content, ● Practice lab safety activity of science is investigating organization and gene number. ● Use models to represent a microscopic and explaining causal relationships o Genetic maps have increased in process at the macroscopic scale and and the mechanisms by which they detail and resolution, from develop explanations are mediated. Such mechanisms can cytogenetic and linkage maps to ● Change and update existing models as then be tested across given contexts physical and sequence maps. new information becomes available and used to predict and explain ● Positional cloning discovered individual ● Interpret a gene map events in new contexts. genes by beginning with a phenotype and ● Use electrophoresis data to determine a gradually identifying a causative gene, gene sequence localizing it to a particular chromosome. ● Apply understanding of genomics to ● In the Sanger method of DNA sequencing, authentic scenarios DNA fragments differing in size and with Practices one labeled end base are aligned, and the ❖ Engaging in Argument from sequence read off from the end bases. Evidence ● Single-molecule detection quickly and Make and defend a claim based on evidence economically unwinds DNA through a about the natural world that reflects microfluid environment, then a laser scanner scientific knowledge, and student-generated reads off fluorescently tagged bases as they evidence. pass by. ❖ Asking Questions and defining ● Expressed sequenced tags enable problems researchers to find protein-encoded genes. Ask questions that arise from examining DNA microarrays reveal gene expression. models or a theory to clarify relationships 61

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● Looking into the future: human genome sequence used for basic biological research, health care, and society. Hopefully it will lead to understanding of how genes contribute to disease and how to reveal more controllable risk factors.

Key Terms: Genomics, positional cloning, Sanger method of DNA sequencing, expressed sequenced tags, DNA microarrays HS-LS3-1 Skills Cause and effect: HS-LS3-2 Pharmacogenetics ● Collect and analyze data to develop Mechanism and explanation. Events explanations have causes, sometimes simple, ● Pharmacogenetics is the study of differences ● Work collaboratively sometimes multifaceted. A major in drug response due to allelic variation in ● Practice lab safety activity of science is investigating genes affecting drug metabolism, efficacy ● Use models to represent a microscopic and explaining causal relationships and toxicity. process at the macroscopic scale and and the mechanisms by which they ● The development of a genetic profile with a develop explanations are mediated. Such mechanisms can reasonable positive predictive value for ● Change and update existing models as then be tested across given contexts toxicity or an adverse drug reaction is likely new information becomes available and used to predict and explain to have an immediate benefit allowing ● Use evidence to create arguments about events in new contexts physicians to choose drugs for which the the relative benefits and risks of patient is not at risk for a severe adverse pharmacogenetics event or for which the dosage of a drug ● Apply understanding of ensures adequate therapy with minimal pharmacogenetics to authentic complications. scenarios ● Pharmacogenetics is relevant to individual Practices variation in drug response in two ways: ❖ Asking Questions and defining pharmacokinetics and pharmacodynamics. problems ● Pharmacokinetics of a drug is one variation Ask questions that arise from examining that looks at the rate at which the body models or a theory to clarify relationships

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absorbs, transports, metabolizes or excretes ❖ Engaging in Argument from drugs or their metabolites. Evidence o Phase I looks at polymorphic alleles Make and defend a claim based on evidence in the cytochrome P450 system that about the natural world that reflects render codeine ineffective or scientific knowledge, and student-generated increase bleeding in warfarin evidence. therapy. o Phase II looks at glucuronyltransferase or thiopurine methyltranferase that increases toxicity of chemotherapeutic drugs. ● Pharmacodynamics of a drug is the second variation that looks at the genetics causes of variability in response to the drug due to allelic variation in the drug’s downstream targets such as receptors, enzymes, or metabolic pathways. o Examples of this type of variation include hemolytic anemia induced by sulfa drugs in patients deficient in the enzyme glucose-6-phosphate dehydrogenase and difficulties in stabilizing patients receiving a dose of warfarin.

Key terms: pharmacogenetics, pharmacokinetics, pharmacodynamics,

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HS-LS3-1 Skills Cause and effect: Bioinformatics ● Collect and analyze data to develop Mechanism and explanation. Events explanations have causes, sometimes simple, ● Bioinformatics is an emerging field ● Work collaboratively sometimes multifaceted. A major concerned with the development and ● Practice lab safety activity of science is investigating application of computer hardware and ● Use models to represent a microscopic and explaining causal relationships software to the acquisition, storage, analysis, process at the macroscopic scale and and the mechanisms by which they and visualization of biological information. develop explanations are mediated. Such mechanisms can o This has allowed scientists to ● Change and update existing models as then be tested across given contexts generate a large amount of new information becomes available and used to predict and explain experimental data which is now ● Apply understanding of bioinformatics events in new contexts stored and analyzed on private and to authentic scenarios public databases. Practices ● This correlation of computer science and ❖ Asking Questions and defining biology has allowed researchers to ensure problems that a DNA sequence is accurate, ability to Ask questions that arise from examining identify all encoded genes and classify models or a theory to clarify relationships genes into known functional groups. ❖ Engaging in Argument from Evidence Key terms: Bioinformatics, open reading frames Make and defend a claim based on evidence about the natural world that reflects scientific knowledge, and student-generated evidence.

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Gentics Course Pacing Chart

PERFORMANCE TASKS TIME RESOURCES/INTERDISCIPLINARY UNIT ACTIVITIES/PROJECTS FRAME CONNECTIONS ASSESSMENTS New Choices, New Responsibility: Ethical Issues in Teacher Background: Life Sciences: Genetics, Ethics, and Human UW School of Medicine: Ethics in Medicine Responsibility: Ongoing ● Genetic Screening in the Workplace Classroom Resources: Integrated ● Challenges in Genetic Counseling DNALC: Eugenics Archive in Context Bioethics ● Germline Gene Therapy National Center for Case Study Teaching in Science of each ● The Cloning of a Human Organism Teaching About Inherited Disorders Through Case Content Studies Unit New Choices, New Responsibilities: Ethical Issues in Life Sciences. The Hastings Center. Hoffman-LaRoche, 2005.

Data discussion: Experiments that identified and BrainPOP: DNA described genetic material DNA replication animation DNA structure modeling: Wards DNA simulation kit DNA strand labeling practice interactive DNA replication modeling: Wards kits DNA structure activity September DNA structure Case workbook: DNA replication DNALC: Base Pairing interactive with Watson’s model 4 blocks Replication Human Genetics: Applied questions and Case studies DNALC: Chargaff’s Ratios video pgs 182-183 DNALC: DNA extraction Virtual Lab Supplemental Investigations DNALC: DNA from the beginning – classical experiments in DNA multimedia library

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DNALC: DNA unzip 3D model video DNALC: How DNA is packaged 3D model video DNALC: James Watson shows base pairing video GSLC: Build a DNA Molecule Interactive GSLC: DNA extraction virtual lab GSLC: Telomeres Infographic Nucleotide assembly interactive PBS: DNA workshop activity Replication Animations SMART Notebook lesson: DNA Telomerase animation Telomeres and telomerase information The Race for the Double Helix film Process Modeling: DNA transcription BrainPOP: RNA Process Modeling: Translation DNALC: Fred Sanger Discovering Codons Process Modeling: DNA to protein modeling kit DNALC: RNA Splicing 3D model video Human Genetics: Applied questions and case studies DNALC: Transcription 3D model video pg 201 DNALC: Translation 3D model video Supplemental Investigations GSLC: Prions Infographic GSLC: Transcription and Translation Interactive How does DNA work? interactive September Transcription Life Cycle of RNA animation 4 blocks Translation NOVA: cracking the code of life video NOVA: explore a stretch of code interactive PBS: DNA workshop activity Polyribosome Animation Race the cell protein synthesis game! Scientific Article: CWD Prion disease in US deer Spliceosome animation Transcription animation Translation interactive

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Translation interactive part 2 Translation interactive part 3 Case Workbook: Alpha1-Antitrypsin Deficiency Enzymes and metabolic pathways chart Human Heredity Case Study: Mad Cow Disease and GSLC: How genes make fireflies glow animation prions pg 241 Protein folding animation Protein September Data Discussion: Interpretation of pathways for PKU Protein folding animation Folding October and Albinism Protein folding animation Proteins to 4 blocks Protein structure and process modeling: Paper Protein synthesis animation phenotypes protein folding activity Lab: Carolina Enzyme Structure and Function Kit Supplemental Investigations Case Workbook: Hypoxia-inducible factor 1 DNALC: gene control multimedia October Gene Process Modeling: What is gene expression? GSLC: gene control interactive 3 blocks Expression Process Modeling: What is epigenetics? Interfering RNA cartoon movie Supplemental Investigations Process Modeling: Big paper activity: drawing of Crossing Over web lab meiosis Dragon Meiosis web lab October Meiosis Data Discussion: Sacordina activity related to crossing SMART Notebook Lesson: Meiosis 2 blocks over Supplemental Investigations Data Discussion: Law of segregation-vs- law of BrainPOP: Heredity independent assortment, modes of inheritance, and DNALC: Mendelian Inheritance Virtual Lab review of major terminology associated with Dragons web lab October Mendelian genetics. GSLC: observable traits slideshow November Mendelian Case Workbook: GSLC: virtual pedigree investigation 6 blocks Genetics Acrocephalosyndactyly Mendel’s peas web lab Carinosinemia Punnett squares web lab Huntington-like disorder SMART Notebook Lesson: Genetics Human Genetics: Applied questions pgs 90-91 SMART Notebook Lesson: Monster Genetics Human Heredity Case Study: pedigree analysis pg 70 Virtual fly lab

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Problem Solving: Big Paper activity: monohybrid, dihybrid and trihybrid crosses. Wards Lab Kit: Mendelian Inheritance Supplemental Investigations Class Discussion: Differences between Mendelian Incomplete dominance and codominance web lab patterns of inheritance and the exceptions Exceptions to Human Genetics: Applied questions and web activities November Mendel’s pgs 108-109 4 blocks Laws Case Workbook: Enamel Hypoplasia Hair and Eye Color Class Discussion: Sex determination BrainPOP: Sex determination Process Modeling: X-linked Inheritance Sex determination and linkage web lab Human Genetics: Applied questions, web based December X-linked activities and Case Studies pgs 130-131 4 blocks inheritance Case Workbook: Anhidrotic ectodermal dysplasia Blue Diaper Syndrome Supplemental Investigations Data Discussion: Overview of how multifactorial traits Directory of Twin Studies are studied GSLC: Nutrition and the epigenome infographic Data Discussion: What are some common GSLC: Lick your rats behavioral genetics interactive multifactorial traits Multifactorial Human Genetics: Case study pg 151 December and Human Genetics: Applied questions pg 165 3 blocks Behavioral Human Genetics: Web activities pg 166 Genetics Case Workbook: Cleft Lip with or without cleft palate Complex traits among the Hutterites Alcoholism

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Human Heredity: Internet Activity pg 139 Fatness perceived by our society Supplemental Investigations Class Discussion: What is mutation? What are different BrainPOP: Genetic Mutations types of mutation? Importance of mutations. DNALC: DNA damage 3D model video Wards Chromosome Simulation Kit: Using DNALC: Exploring mutant organisms Virtual Lab manipulatives to construct chromosomes DNALC: Mutation repair multimedia Investigation: Karotyping activitiy Mutate your name interactive Chromosomes Case Workbook: Mutation repair Exchange animation January and gene Bloom Syndrome Mutation repair Excision animation 6 blocks mutations DNA repair Mutation repair Mismatch animation Open Angle Glaucoma Mutation repair Nucleotide Excision animation Von Willebrand Syndrome NASA Module: Radiation Human Genetics: Applied questions pg 237-238 NASA Module: Radiation Damage in Living Organisms Human Genetics: Applied questions pg 265 NASA Module: Radiation Countermeasures Supplemental Investigations NASA Module: Applications to Life on Earth MIDTERM EXAM Data Discussion: What is cancer? Which types of DNALC: Pathways to cancer 3D model video mutations cause cancer? DNALC: Tumor growth 3D model video Case Workbook: GSLC: NF1 mutation virtual lab February Genetics of Acute T Cell Leukemia Inside Cancer Teacher Center 3 blocks cancer Thyroid Cancer Human Heredity Case Studies: pg 364 Human Heredity: Internet Activities pg 367 #3 Supplemental Investigations Data Discussion: Autosomal dominant disorders DNALC: Your Genes Your Health disorder library Porphyria variegata, Achondroplasia, Huntington’s GSLC: Genetic disorders library Autosomal February Chorea, Hereditary Hemorrhage Telangiectasia, and dominant 3 blocks Apert’s Syndrome disorders Independent Research on autosomal dominant disorders 69

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Genetics in Medicine: Case Study Achondroplasia pgs 232-233 Supplemental Investigations Data discussion: Autosomal recessive disorders DNALC: Your Genes Your Health disorder library Gaucher Disease, Albinism, Tay Sach’s disease, GSLC: Genetic disorders library Cystic fibrosis, PKU and thalassemia Independent Research on autosomal recessive Autosomal February disorders recessive 3 blocks Genetics in Medicine: Case Study disorders Cystic Fibrosis pgs 252-253 Tay-Sachs Disease pgs 310-311 Thalassemia pgs 312-313 Supplemental Investigations Data discussion: X-linked disorders Hemophilia, DNALC: Your Genes Your Health disorder library Colorblindness, G6PD, Menkes disease, and GSLC: Genetic disorders library Duchenne Muscular Dystrophy, Dentinogenesis imperfecta, Darier’s disease, and Fragile X February syndrome. X-linked March Independent Research on X-linked disorders disorders 3 blocks Genetics in Medicine: Case Study Duchenne Muscular Dystrophy pgs 256-257 G6PD pgs 264-265 Fragile X Syndrome pgs 262-263 Supplemental Investigations Data discussion: Pseudohermaphrodism, sex reversals, DNALC: Your Genes Your Health disorder library Sex chromosomal abnormalities including Trisomy 21, GSLC: Genetic disorders library determination Edwards syndrome, Patau Syndrome, Klinefelters GSLC: Karyotyping virtual lab March disorders syndrome, Turner syndrome. GSLC: Using karyotypes to predict genetic disorders 5 blocks Chromosomal Independent Research on Sex determination animations and quiz disorders disorders/chromosomal disorders Case Workbook:

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Down Syndrome Turner Syndrome Intersex Pseudohermaphroditism Genetics in Medicine: Case Study Sex Reversal pgs 306-307 Turner Syndrome pgs 318-319 Supplemental Investigations Process Modeling: Recombinant DNA technology and DNALC: DNA Transformation Animation its major uses. DNALC: Glowing genes Virtual Lab Lab: Carolina bacteria transformation kit GSLC: Knockout Transgenic Mice infographic Genetically March Case Workbook: SMART Notebook Lesson: Genetic Engineering Modified 3 blocks Hemophilia A and B SMART Notebook Lesson: Genetically Modified Foods Organisms Infertility drugs Human Genetics: Applied questions pg 389 Supplemental Investigations Data discussion: How recombinant DNA is used in DNALC: Stem Cell Animation gene therapy? Success and setbacks in gene therapy. Genetic counseling interactive Gene Therapy Case Workbook: GSLC: Gene therapy cystic fibrosis case Genetic April Gene Doping GSLC: Gene therapy space doctor interactive Testing 5 blocks Newborn Screening GSLC: Issues in gene therapy Genetic Human Genetics: Applied questions and web activities Lesson Plan: Simulated Genetic Counseling Counseling pg 407 Supplemental Investigations Data discussion: Student presentations on different Ethics Curriculum Project: Assisted Reproductive assisted reproductive technologies; discussion to Technology April Reproductive follow. NY Times: Fertility Lesson Plan May Technology Case Workbook: 5 blocks Charcot-Marie-Tooth disease Male infertility

Hillside Township School District

Human Genetics: Applied questions and web activity on reproductive technology pg 421-422 Supplemental Investigations Class discussion: Genomic sequencing and how it DNALC: Chromosome Map Video drives the future of biology, health and science. DNALC: Cycle Sequencing Animation Lab: PCR Forensics simulation kit DNALC: DNA Arrays Animation Lab: Carolina web cutter kit DNALC: Genome Mining Module Case Workbook: DNALC: Polymerase Chain Reaction Animation Diffuse large B cell lymphoma DNALC: Polymerase Chain Reaction 3D model video May Muscle cell DNA microarray DNALC: Restriction Analysis Virtual Lab Genomics 5 blocks Human Genetics: Applied questions pgs 438 DNALC: Sanger Sequencing Animation Supplemental Investigations DNA Fingerprinting web lab Gene boy sequence analysis tool GSLC: DNA microarray virtual lab GSLC: Click and Clone interactive GSLC: Gel electrophoresis virtual lab GSLC: PCR virtual lab Process Modeling: What is pharmacogenetics? What is FDA drug information for consumers May Pharmoco- this used for? GSLC: Pharmacogenomics main page 4 blocks genetics Genetics in Medicine: Problems pg 505 GSLC: Pus-popping frogs drug design web lab Supplemental Investigations Data discussion: What is bioinformatics? How is it DNALC: bioinformatics multimedia June Bio- used in medicine? 3 blocks informatics Supplemental Investigations FINAL EXAM Resources NGSS NJ Technology Standards