Single-molecule analysis for molecular haplotyping

✍ Scribed by Pui-Yan Kwok; Ming Xiao

• Publisher: John Wiley and Sons
• Year: 2004
• Tongue: English
• Weight: 100 KB
• Volume: 23
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.20020

✦ Synopsis

For the Mutation Detection 2003 Special Issue

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.