lecture_15__05 - Mendelian genetics in humans: pedigrees...

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Mendelian genetics in humans: pedigrees Rules for pedigrees: Ο = female, • = male filled-in symbol = affected for disease or trait in question / across symbol = deceased generation 1 generation 2
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Fig. 14.14 Dominant vs. Recessive traits
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? If the father of Lenore Wexler was heterozygous for the Huntington’s disease allele, what is the probability that all of his 4 children would be affected? Huntington’s disease is a fatal neurological disorder that is caused by a dominant allele but does not become apparent until an affected individual is 35 - 45 years old: ? What is the probability of Alice being affected? ? What is the probability of neither Alice nor Nancy being affected?
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www.people.virginia.edu/ ~rjh9u/gif/alkap3.gif Shown below is a pedigree of alkaptonuria, an inherited disorder . The main phenotype of this trait is that the urine turns black after awhile due to oxidation of the homogentisic acid excreted in the urine. At the biochemical level, the trait is due to a deficiency of the enzyme homogentisic oxidase in the pathway of tyrosine degradation. You are told that alkaptonuria is inherited as an autosomal recessive trait, like most enzyme deficiency disorders ? What pattern of inheritance is consistent with this pedigree? ? What could be the explanation?
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? What is the most likely mode of inheritance for this disease? What if the disease-associated allele was on the X chromosome? 1
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This document was uploaded on 09/06/2009.

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lecture_15__05 - Mendelian genetics in humans: pedigrees...

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