Single-molecule analysis for molecular haplotyping

Authors

  • Pui-Yan Kwok,

    Corresponding author
    1. Department of Dermatology, University of California, San Francisco, California
    2. Cardiovascular Research Institute, University of California, San Francisco, California
    • Cardiovascular Research Institute, University of California, San Francisco, 505 Parnassus Ave., Box 0130, L1332A, San Francisco, CA 94143-0130
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  • Ming Xiao

    1. Cardiovascular Research Institute, University of California, San Francisco, California
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  • For the Mutation Detection 2003 Special Issue

Abstract

In the genome era, there is great hope that genetic approaches such as linkage equilibrium mapping can be used to study common human disorders using a case-control population association study design. Ideally, the parental chromosomes are marked so that chromosomal regions in the form of haplotypes are compared in these studies to increase the power of association. Determining the haplotypes in a diploid individual is a major technical challenge in genetic studies of complex traits. A molecular approach to haplotyping is therefore highly desirable. Recent advances in DNA preparation, separation, labeling, and image analysis provide hope that a strategy of using a three-dye system coupled with DNA distance measurements between alleles will yield haplotype information of sufficiently high quality for genetic studies. In this work, we present the outline of the major challenges one must meet in developing a robust strategy for SNP detection and molecular haplotyping using single molecule analysis. Hum Mutat 23:442–446, 2004. © 2004 Wiley-Liss, Inc.

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