Name ______Date ______Block ______Chapter 11 – Genetic Disorders – CP

1. Major types of genetic disorders: • ______o ______o ______• ______• ______2. Autosomal genetic disorders are caused by ______• Most are ______(need 2 recessive to have the disorder) o People with 1 recessive are ______- they do NOT have the disorder but are able to ______o Ex: (CF), sickle-cell • Can also be ______(need only 1 allele to have the disorder) o Ex: Huntington’s A) Cystic Fibrosis • CF is the most common genetic disorder among ______o ~1 in 2500 white infants in the US are born with CF (4-5 born each day) o It is estimated that 1 in 20 white people is a carrier of the CF allele • Caused by an abnormal on ______o The gene is for a ______that uses ______to regulate the movement of sodium (Na+) and chloride (Cl-) ions into and out of cells o In healthy individuals, the normal protein ______§ Keeps mucus thin and ______o With CF, not enough Cl- ions are pumped out of cells § ______in airways & pancreatic ducts • Symptoms of CF: o Buildup of mucus in ______§ Difficulty ______§ ______

o Blocks ______(produced by the pancreas) from entering the intestine § ______o Abnormal Na+ transport also results in ______• Treatments for CF: o For respiratory symptoms: § ______§ ______§ ______§ ______in severe cases o For digestive symptoms: § Capsules containing ______B) Sickle-Cell Anemia (______) • The most common genetic disorder among ______o About 1 in 500 African Americans has sickle-cell anemia. o Carriers are said to have sickle-cell ______• Caused by an abnormal gene on ______o The gene is for one of the polypeptide chains in ______, a protein found in ______that is responsible for ______o Sickle-cell anemia causes to ______within red cells, ______from the normal biconcave disc to a sickle shape.

o People with sickle-cell trait have some ______but do not have the symptoms of sickle-cell disease • Symptoms of Sickle-Cell Anemia: o Abnormal hemoglobin ______as efficiently to cells as in healthy individuals § ______§ ______§ ______o Sickled red blood cells cannot move as easily through ______as normal RBCs § Chronic ______, especially in ______§ ______to § ______• Treatments for Sickle-Cell Anemia: o ______o ______o ______that increase the oxygen-carrying capacity of red blood cells o Drugs that “switch on” the gene for ______hemoglobin (normally switched off after birth)

• Heterozygote Superiority o Sickle-cell anemia is most common in areas of the world where ______is prevalent § is caused by a parasite that ______§ These parasites do not thrive in people with ______, so people with sickle-cell trait are ______to malaria o People who are heterozygous for the cystic fibrosis allele may be more resistant to ______o When ______have an advantage over people who are ______, it is called ______C) Huntington’s Disease • Caused by an ______(unlike most human genetic disorders) o Both men & women ______to get the disorder • Symptoms of Huntington’s disease o Huntington’s disease affects a person’s ______§ ______§ ______§ ______§ ______§ Loss of muscle coordination and ability to speak o Symptoms normally appear by ______o Huntington’s disease is always ______§ Death normally occurs within ______after the onset of symptoms

3. Many genetic disorders are believed to be the result of ______: • ______(Type 1 & II) • ______• ______o , schizophrenia • These are much more complicated to analyze than disorders caused by single

4. Sex-linked disorders are almost always caused by mutant alleles on the ______• ______• ______o Women can be ______, but men cannot o Ex: Homozygous normal female: XBXB Carrier female: XBXb Colorblind female: XbXb Normal male: XBY Colorblind male: XbY A) Hemophilia is caused by an abnormal gene for ______• Blood does not clot normally, so even a tiny cut can result in ______• ______is also a major concern o Most common around ______• Hemophiliacs ______B) Red-green colorblindness is caused by an abnormal gene for ______• The genes for both red and green photoreceptors are located on the X – colorblindness can result from recessive alleles for either one or both of these genes

5. Chromosome abnormalities are caused by mistakes made during meiosis • May change the ______or ______of in the gametes that are formed o ______- the failure of a pair of chromosomes to separate during meiosis § Results in one gamete having too many chromosomes and another too few § ______- a zygote gets 3 copies of a chromosome § ______- a zygote gets only 1 copy of a chromosome

o ______is when a piece of one chromosome breaks off and attaches to a different chromosome § Often happens to 2 chromosomes at once • Both nondisjunction and translocation can be detected in ______o Made from taking individual pictures of all of a human’s chromosomes and matching up ______A) – a genetic disorder that results from • Nondisjunction – the person has an extra copy of ______• Translocation – most of chromosome 21 breaks off during meiosis and fuses with another chromosome o Symptoms of Down syndrome: § Mild to severe ______§ ______§ ______§ Susceptibility to ______and ______Section 2

1. ______disabilities are different from genetic disorders • ______• Occur during ______

2. Both genetic and congenital disorders can often be detected ______

3. Genetic ______• Can help parents determine the ______of their child being born with a genetic disorder o Genetic counselors study the ______of both parents § Create ______to trace the passage of traits o ______analyze blood tests to determine if parents are ______of certain genetic disorders • Usually can NOT determine whether or not a child will be born with a disorder, only the probability

4. Two main ways to diagnose genetic disorders: • Analysis of ______o ______o ______• ______techniques: o ______o ______

A) • ______is the fluid that surrounds a fetus inside the uterus o Also contains fetal cells • A sample of amniotic fluid is taken and cells are grown in a lab o Can be used to make a ______§ Detects ______o Can be analyzed for ______§ Detects ______• Cannot be conducted until ______

B) Chorionic Villus Biopsy • Chorionic villi are structures that help maximize the surface area for ______between a mother and developing fetus (they are part of the ______) • The villi develop from ______and therefore contain the same ______as the fetus & amniotic fluid • A sample of these cells can be taken and analyzed as in amniocentesis o ______o ______• Can be done as early as ______

C) Ultrasonography • Uses high-frequency ______which bounce off of tissue o Depending on the ______of the tissue, the waves “echo” back at different ______and are used to produce a computerized image called an ______• Used in most pregnancies to detect ______• Used with amniocentesis to ______• Can also help doctors detect abnormalities such as ______

D) Fetoscopy • A ______is made in a pregnant woman’s ______• An ______is inserted through the incision o Has a ______on the end that ______on a monitor o ______can be inserted through the endoscope tube to ______

5. Developing for genetic disorders: A) • Introducing ______into the cells of people with ______o Using ______o Enclosing alleles in ______, which are taken into the cell by ______• Currently these are still ______and have had ______