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LECTURE2 - Some single gene traits in humans...

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Brachydactyly (dominant) Widow’s peak (dominant) Albanism (recessive) Sickle cell anemia (partially recessive) Some single gene traits in humans
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Female Male Mating Parents and children: 1girl;1 boy (in birth order) II I 1 2 1 2 Affected individuals Heterozygotes for autosomal recessive Pedigree symbols
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II III IV I 1 2 3 4 5 1 2 3 4 5 1 2 3 4 5 6 7 Cystic Fibrosis - a classic autosomal recessive disorder
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Working with pedigrees: A rare recessive phenotype 1 The trait can, and often does, skip generations 2 Males and females are equally affected 3 The trait often appears in progeny of unaffected parents 4 Pedigrees are often “sparse” 5 Often affected individuals are inbred (common ancestry) II III IV I 1 2 3 4 5 1 2 3 4 5 1 2 3 4 5 6 7
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Working with pedigrees: A rare recessive phenotype II III IV I 1 2 3 4 5 1 2 3 4 5 1 2 3 4 5 6 7 Let “ A ” represent the wildtype allele and “ a ” represent the recessive CFTR mutation What can we tell about III-5 & III-6 (parents of the affected)? About their parents (generation II)? aa aa
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Working with pedigrees: A rare recessive phenotype II III IV I 1 2 3 4 5 1 2 3 4 5 1 2 3 4 5 6 7 In generation II & III, what are the genotypes of the others? What is the probability of III-1 being a carrier? aa aa AA AA Aa Aa Aa Aa
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Working with pedigrees: A rare recessive phenotype II III IV I 1 2 3 4 5 1 2 3 4 5 1 2 3 4 5 6 7 In generation IV, what are the genotypes the unaffected siblings? What is the probability that IV-1 is a carrier? aa aa AA AA Aa Aa Aa Aa A– A– A– A– A– A–
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Working with pedigrees: A rare recessive phenotype II III IV I 2/3 prob carrier 1/2 prob carrier 1 2 3 4 5 1 2 3 4 5 1 2 3 4 5 6 7 aa aa AA AA Aa Aa Aa Aa A– A– A– A– A– A– A– A– A–
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Marfan Syndrome: A Rare Dominant Disorder 1 The trait is typically seen in each generation 2 Males and females are equally affected 3 If one parent is affected and the other is not, descendents are both affected and non- affected.
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Marfan Syndrome: A Rare Dominant Disorder Assign A for the Marfan allele a for the wildtype allele
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Marfan Syndrome: A Rare Dominant Disorder Aa Aa Aa Aa Aa Aa Aa Assign A for the Marfan allele a for the wildtype allele
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Marfan Syndrome: A Rare Dominant Disorder aa aa aa aa Aa aa Aa aa aa aa Aa aa Aa Aa aa aa Aa aa aa aa Aa aa What is the probability that the next child of II-6 & II-7 will have Marfan syndrom? What about the next child from II-1 & II-2? What is the probability that the first child of II-5 has Marfan Syndrome?
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Marfan Syndrome: A Rare Dominant Disorder aa aa aa aa Aa aa Aa aa aa aa Aa aa Aa Aa aa aa Aa aa aa aa Aa aa What is the probability that the next child of II-6 & II-7 will have Marfan syndrom? What about the next child from II-1 & II-2?
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