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Single‐molecule analysis for molecular haplotyping
Author(s) -
Kwok PuiYan,
Xiao Ming
Publication year - 2004
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20020
Subject(s) - haplotype , biology , genetics , haplotype estimation , genetic association , computational biology , tag snp , snp , allele , hum , population , snp array , linkage disequilibrium , single nucleotide polymorphism , gene , genotype , demography , sociology , art , performance art , art history
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.