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Pedigree Charts 3.4 Inheritance Essential idea: The inheritance of genes follows patterns. The patterns that genes and the phenotypes they generate can be mapped using pedigree charts. The image show a small section of a pedigree chart that maps the inheritance of hair colour in an extended family over several generations. Analysis of pedigree charts enables us to the nature of the inheritance; controlled by dominant or recessive alleles? linked to the sex chromosomes? controlled by multiple genes or a single gene? By Chris Paine http://www.bioknowledgy.info/ http://www.indiana.edu/~oso/lessons/Genetics/RealColors.html Understandings Statement Guidance 3.4.U1 Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed. 3.4.U2 Gametes are haploid so contain only one allele of each gene. 3.4.U3 The two alleles of each gene separate into different haploid daughter nuclei during meiosis. 3.4.U4 Fusion of gametes results in diploid zygotes with two alleles of each gene that may be the same allele or different alleles. 3.4.U5 Dominant alleles mask the effects of recessive alleles but co-dominant alleles have joint effects. 3.4.U6 Many genetic diseases in humans are due to recessive alleles of autosomal genes, although some genetic diseases are due to dominant or co-dominant alleles. 3.4.U7 Some genetic diseases are sex-linked. The pattern of Alleles carried on X chromosomes should be inheritance is different with sex-linked genes due to shown as superscript letters on an upper case X, their location on sex chromosomes. such as Xh. 3.4.U8 Many genetic diseases have been identified in humans but most are very rare. 3.4.U9 Radiation and mutagenic chemicals increase the mutation rate and can cause genetic diseases and cancer. Applications and Skills Statement Guidance 3.4.A1 Inheritance of ABO blood groups. The expected notation for ABO blood group alleles: O = i, A=IA, B = IB. 3.4.A2 Red-green colour blindness and hemophilia as examples of sex-linked inheritance. 3.4.A3 Inheritance of cystic fibrosis and Huntington’s disease. 3.4.A4 Consequences of radiation after nuclear bombing of Hiroshima and accident at Chernobyl. 3.4.S1 Construction of Punnett grids for predicting the outcomes of monohybrid genetic crosses. 3.4.S2 Comparison of predicted and actual outcomes of genetic crosses using real data. 3.4.S3 Analysis of pedigree charts to deduce the pattern of inheritance of genetic diseases. 3.4.U1 Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed. Johann Gregor Mendel Mendel’s principles of inheritance (1822-1884) Learn about Mendel and his work by using the weblinks Gregor Mendel: Great Minds by SciShow Because of his work with pea plants Mendel is considered the father of modern genetics. He planted 1000s of seeds per trial and https://youtu.be/GTiOETaZg4w?list=PLC31B0C382 carried out many trials Biologica: Mendel’s Peas F9585D6 to be sure of his results. Gregor Mendel and pea plants His published work (1865) is now considered important, but at the time was ignored for 30 years. http://biologica.concord.org/webtest1/ https://www.dnalc.org/view/16002-Gregor- web_labs_mendels_peas.htm Mendel-and-pea-plants.html https://upload.wikimedia.org/wikipedia/commons/3/3d/Gregor_Mendel_oval.jpg Nature of science: Making quantitative measurements with replicates to ensure reliability. Mendel’s genetic crosses with pea plants generated numerical data. (3.2) To use statistical tests correctly and reach valid conclusions samples of quantitative data has to be sufficiently large Larger samples give smaller First to develop theory scientists must make standard deviation*, this in deductions and test hypotheses: both processes turn makes it easier to find a rely on quantitative data. statistically significant result at Secondly It is not enough to just have numerical a higher confidence level data, the sample size must be sufficiently large to be judged reliable. In smaller samples anomalous values are more likely to skew the calculated mean The sample size required and standard varies: deviation • The larger the natural variation the larger the sample • Depends on the type *The standard deviation of the population is constant: (small) samples of statistical test used have a higher standard deviation than the population the sample comes from. http://www.conceptstew.co.uk/PAGES/nsamplesize.html Nature of science: Making quantitative measurements with replicates to ensure reliability. Mendel’s genetic crosses with pea plants generated numerical data. (3.2) To use statistical tests correctly and reach valid conclusions samples of quantitative data has to be sufficiently large Larger samples give smaller First to develop theory scientists must make standard deviation*, this in deductions and test hypotheses: both processes turn makes it easier to find a rely on quantitative data. statistically significant result at Secondly It is not enough to just have numerical a higher confidence level data, the sample size must be sufficiently large to be judged reliable. In smaller samples anomalous values are more likely to skew the calculated mean The sample size required and standard depends on: deviation • The larger the natural variation the larger the sample • Type of statistical test *The standard deviation of the population is not affected, remember used that (small) samples have a higher standard deviation than the population the sample comes from. http://www.conceptstew.co.uk/PAGES/nsamplesize.html This image shows a pair of homologous chromosomes. Definitions Name and annotate the labeled features. This image shows a pair of homologous chromosomes. Definitions Name and annotate the labeled features. Genotype The combination of alleles Homozygous dominant of a gene carried by an organism Having two copies of the same dominant allele Phenotype The expression of alleles Homozygous recessive of a gene carried by an organism Having two copies of the same recessive allele. Recessive alleles are Centromere only expressed when homozygous. Joins chromatids in cell division Codominant Alleles Pairs of alleles which are both Different versions of a gene expressed when present. Dominant alleles = capital letter Recessive alleles = lower-case letter Heterozygous Having two different alleles. The dominant allele is expressed. Carrier Gene loci Heterozygous carrier of a Specific positions of genes on a recessive disease-causing allele chromosome Review: 3.3.U2 The halving of the chromosome number allows a sexual life cycle with fusion of gametes. Many eukaryotes reproduce by sexual reproduction. Even organisms capable of asexual reproduction will reproduce sexually as well. Sexual reproduction involves fertilisation, the fusion of gametes (sex cells), one from each parent. Because fertilisation involves the fusion of gametes the number of chromosomes in the next generation is doubled. To compensate for the chromosome doubling during fertilisation gametes To prevent a doubling of undergo meiosis, chromosomes in each which halves the generation a halving chromosomes mechanism is needed present in gametes during the life cycle. compared to the parent. http://www.biologycorner.com/resources/diploid_life_cycle.gif 3.4.U3 The two alleles of each gene separate into different haploid daughter nuclei during meiosis. AND 3.4.U2 Gametes are haploid so contain only one allele of each gene. AND 3.4.U4 Fusion of gametes results in diploid zygotes with two alleles of each gene that may be the same allele or different alleles. Because fertilisation involves the fusion of gametes the number of chromosomes is doubled. The diploid organism also now contains two alleles for each gene locus. Meiosis, along with halving the chromosomes present in gametes The alleles present at also reduces the a gene locus maybe number of alleles similar or different. of each gene locus from two to one. http://www.biologycorner.com/resources/diploid_life_cycle.gif 3.4.A1 Inheritance of ABO blood groups. The ABO blood type classification system uses the presence or absence of certain antigen on red blood cells to categorize blood into four types. Distinct molecules called agglutinogens (a type of antigen) are attached to the surface of red blood cells. There are two different types of agglutinogens, type "A" and type "B”. http://www.ib.bioninja.com.au/_Media/abo_blood_groups_med.jpeg http://www.anatomybox.com/tag/erythrocytes/ 3.4.A1 Inheritance of ABO blood groups. More about blood typing A Nobel breakthrough in medicine. Antibodies (immunoglobulins) are specific to antigens. The immune system recognises 'foreign' antigens and produces antibodies in response - so if you are given the wrong blood type your body might react fatally as the antibodies cause the blood to clot. Blood type O is known as the universal donor, as it has no antigens against which the recipient immune system can react. Type AB is the universal recipient, as the blood has no antibodies which will react to AB antigens. Blood typing game from Nobel.org: Images and more information from: http://nobelprize.org/educational/medicine/landsteiner/readmore.html http://learn.genetics.utah.edu/content/begin/traits/blood/ 3.4.A1 Inheritance of ABO blood groups. The ABO blood type is controlled by a single gene, the ABO gene. This gene has three different alleles: i O allele (no anitgen is produced) Allele variant IA A allele (type “A” anitgen is produced) A IB B allele (type “B” anitgen is produced) I Gene (lower case for ‘recessive’ alleles) Diploid cells possess two alleles therefore the possible genotype and phenotype combinations are: Genotype Antigen production Phenotype (allele combination) (characteristic expressed) ii No antigen produced Blood type O IAIA and IAi Type “A” anitgen produced Blood type A IBIB and IBi Type “B” anitgen produced Blood type B IAIB Both type “A” and “B” anitgens produced Blood type AB http://www.anatomybox.com/tag/erythrocytes/ 3.4.U5 Dominant alleles mask the effects of recessive alleles but co-dominant alleles have joint effects.
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