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17 Cards in this Set
- Front
- Back
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What are Family/linkage Studies good for? What are they not good for?
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Good for rare monogenic disorders
Not good for the common polygenic disorders |
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What is the basis of how a population study is done?
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You look for genetic differences in a patient population with a disease, compared to people without the disease.
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What type of study design is a population study?
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Case vs control
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What do you hope to find with a population study?
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That all the cases have a similar genetic defect, and all the controls don't.
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How is a DIRECT SNP association study designed?
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By cataloging and testing all FUNCTIONAL SNPs, to see if one is mutated and nonfunctional in the case population and not in the control.
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Where do you find all these functional SNPs?
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It's hard so you use the indirect approach.
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What is the Indirect Approach to Association studies?
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By using a dense map of SNPs and testing for linkage disequilibrium.
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What is linkage disequilibrium?
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Better called ALLELIC disequilibrium; the probability of linkage occuring due to a common ancestory way back somewhere.
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Why is linkage disequilibrium called disequilibrium?
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Because it exploits the fact that linkage could occur by nonrandom assortment due to a common ancestor - not equilbrium like hardy weinberg described.
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So what does Indirect SNP analysis look for?
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A common SNP within patients with a disease phenotype.
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What is a Haplotype?
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The pattern of SNP alleles on a single chromosome in a block
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What is the advantage of a haplotype?
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It is more informative than a single SNP
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What is a Haplotype used for in genetic association studies?
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Measuring linkage disequilibrium
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So if a population of diseased patients have inherited the disease due to genetics, what is likely?
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That they inherited a lot of SNPs together
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What are the problems of Candidate gene studies using SNP haplotypes?
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-Difficult to replicate results
-Selection of candidate genes is difficult |
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What is the International HapMap Project?
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An effort to identify a representative subset of SNPs that distinguish the haplotypes of people; that are linked more often that randomly predicted.
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What does this study generate?
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TAGsnps
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