JSM 2005 - Toronto

Abstract #302402

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Legend: = Applied Session, = Theme Session, = Presenter
Activity Number: 84
Type: Invited
Date/Time: Monday, August 8, 2005 : 8:30 AM to 10:20 AM
Sponsor: Biopharmaceutical Section
Abstract - #302402
Title: Using Linkage to Inform Positional Cloning
Author(s): Mary Sara McPeek*+
Companies: The University of Chicago
Address: Department of Statistics, Chicago, IL, 60637,
Keywords: genetic mapping ; association ; statistical genetics ; bioinformatics ; linkage ; SNPs
Abstract:

The first step in mapping a gene for a trait often involves using linkage analysis to identify a region on a chromosome where a gene of interest may lie. Linkage disequilibrium mapping may sometimes be used to further refine the region. At this point, one may be able to identify one or several genes within the region. Even if only a single gene lies in the region, it may contain a large number of polymorphic sites (base pairs of DNA that vary across individuals), and a question of interest is to determine which site or combination of sites influence the trait. Ultimately, only well-designed biological studies can establish that particular variation influences susceptibility. However, we can address the question of whether a particular set of polymorphisms can fully ``explain," in the statistical sense, the observed linkage to the region. In this paper, we suppose many tightly-linked SNPs have been identified and genotyped in affected sibships in a region showing strong linkage with a binary trait.

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