10_Human_Genetic_Disease

10_Human_Genetic_Disease - HumanGeneticDisease

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m a n Genetic Disease Human Genetic Disease Today’s questions: How do patterns of inheritance nd natural selection affect human genetic and natural selection affect human genetic disease? I. Transmission genetics of human disease lection dynamics of CF II. Selection dynamics of CF III. Selection on late onset illnesses IV. Gene x environment interactions revisited
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I.Transmission genetics of human disease A. Selection against recessive alleles ( t) i ll l h l f t i Many (or most) recessive alleles have loss of function or knock out mutations—they do not hy do eterozygotes ave Why do heterozygotes have a
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Observation 1: CF alleles are at a frequency of about 2% in populations of Northern European ancestry. Given the strength of selection against individuals with the disease phenotype, this is very high–even though bservation 2: lmonella phi nters gut cells Observation 2: Salmonella typhi enters gut cells through the CF gene product. This event starts an fection and may lead infection and may lead to
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This note was uploaded on 05/25/2010 for the course BIO 180 taught by Professor Bradshaw during the Spring '09 term at University of Washington.

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10_Human_Genetic_Disease - HumanGeneticDisease

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