Class 30 - Human Genetics part 1 So far we know How alleles...

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Human Genetics - part 1 So far we know. .... How alleles assort randomly How recombination can influence this How to design test crosses How to observe alleles at both phenotypic and molecular levels BUT. .. in humans it is tough to do some of these steps so gene “mapping” is problematic 2
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Human’s are a large population One way to map genes in humans is to apply principles of population genetics Today we will go over some of these principles focusing on those parts that will be useful for human gene mapping 3
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How does human genetics happen in the real world? “A guy walks into a clinic. ...” Reports a condition - usually a child Symptoms (phenotypes) are defined Rarely if a genetic scenario - get family info Create a pedigree Determine mode of inheritance if possible Carry out linkage analysis - later. .. If not possible - try to see if phenotype is distributed in the human population if so - figure out if particular alleles are associated with this phenotype 4
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How do you “associate alleles with” a phenotype? Strategy - simply stated identify a population with a phenotype determine the “allele frequency” for every allele you can test in that population compare to the allele frequency in the total population If the frequency of an allele in the subpopulation is different than total it is associated with the phenotype 5
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This note was uploaded on 02/25/2010 for the course MCDB 2150 taught by Professor Winey,mark during the Spring '06 term at Colorado.

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Class 30 - Human Genetics part 1 So far we know How alleles...

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