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9 Cards in this Set
- Front
- Back
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Susceptibility curve |
Close relative's of an affected personwill have an increased susceptibility to the disease. Affected person must have“high susceptibility genes”. Relatives share some of these increasing theirrisk and more likely to be affected. |
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What are GWAS used for ? |
•Detectssusceptibility alleles linked to a complex disease •Looksfor allelic association-occurrence of alleles linked to a phenotype within apopulation •Performcase-control studies using SNP microarrays •Genomewide analysis •Detectlinkage disequilibrium |
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What is linkage disequilibrium |
non-random association of alleles at different loci |
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Steps in GWAS? |
HapMap Genotyping case-control study Genome Scan result Display Replication test - CollectDNA from patients and unaffectedindividuals - Compare allele frequencies at each SNP. Select SNPs whose allele frequencies differ significantly between cases and control Plot on linear map of chromosome - Confirm scan findings by genotyping associated SNPs in an independent case-control study |
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What is a HapMap? |
•acatalogueofthe common SNPs that are present in the different human populations. |
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What info does a HapMap provide? |
- information on SNPallele frequencies in different populations
-constructed haplotypes ofthe human genome -identified ancestral haplotypes and tag SNPs |
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What are haplotypes? |
clustersof SNPs which are inherited together. SNPswhich are located close to each other along a chromosome are inherited togetherin clusters because they tend to undergo minimal recombination |
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What are ancestral haplotypes? When are they used? |
SNPs inherited together which were common to all of the different human populations tested GWAS |
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Link to CTP |
AS, Crohn's, MS, RA, SLE and UC all have associated DNA variants
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