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17 Cards in this Set

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