The figure below shows the pedigree of a family for a completely penetrant, auto
ID: 36499 • Letter: T
Question
The figure below shows the pedigree of a family for a completely penetrant, autosomal dominant disease, together with the corresponding genotype of each individual for four microsatellite loci. The four microsatellite loci are not linked.
What hypothesis or hypotheses can you propose about the linkage relationships between the microsatellite loci and the putative disease gene? Describe how you could go about testing your hypothesis. I do not want any calculations in your answer for this question
The figure below shows the pedigree of a family for a completely penetrant, autosomal dominant disease, together with the corresponding genotype of each individual for four microsatellite loci. The four microsatellite loci are not linked. What hypothesis or hypotheses can you propose about the linkage relationships between the microsatellite loci and the putative disease gene? Describe how you could go about testing your hypothesis. I do not want any calculations in your answer for this questionExplanation / Answer
In a small chromosomal region, a number of polymorphisms may be both linked to and associated with a disease. Distinguishing the potential causal sites from those indirectly associated due to linkage disequilibrium (LD) with a causal site is an important problem. This problem may be approached by determining which of the associations can explain the observed linkage signal. Recently, several methods have been proposed to aid in the identification of disease associated polymorphisms that may explain an observed linkage signal, using genotype data from affected sib pairs (ASPs) . These methods can be used to test the null hypothesis that a candidate single nucleotide polymorphism (SNP) is the sole causal variant in the region, or is in complete LD with the sole causal variant in the region. We extend variations of these methods to test for complete LD between a disease locus and haplotypes composed of two or more tightly linked candidate SNPs. We study properties of the proposed methods by simulation and apply them to type 1 diabetes data for ASPs and their parents at candidate SNP and microsatellite marker loci in the Insulin (INS) gene region.
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