[Construction of haplotype and haplotype block based on tag single nucleotide polymorphisms and their applications in association studies].
Human genome has structures of haplotype and haplotype block which provide valuable information on human evolutionary history and may lead to the development of more efficient strategies to identify genetic variants that increase susceptibility to complex diseases. Haplotype block can be divided into discrete blocks of limited haplotype diversity. In each block, a small fraction of ptag SNPsq can be used to distinguish a large fraction of the haplotypes. These tag SNPs can be potentially useful for construction of haplotype and haplotype block, and association studies in complex diseases. There are two general classes of methods to construct haplotype and haplotype blocks based on genotypes on large pedigrees and statistical algorithms respectively. The author evaluate several construction methods to assess the power of different association tests with a variety of disease models and block-partitioning criteria. The advantages, limitations and applications of each method and the application in the association studies are discussed equitably. With the completion of the HapMap and development of statistical algorithms for addressing haplotype reconstruction, ideas of construction of haplotype based on combination of mathematics, physics, and computer science etc will have profound impacts on population genetics, location and cloning for susceptible genes in complex diseases, and related domain with life science etc.
Gu
Ming-liang
ML
Department of Medical Genetics, Institute of Medica Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, Yunnan 650118 PR China.
Chu
Jia-you
JY
D000465:Algorithms; D019295:Computational Biology; D003198:Computer Simulation; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008433:Mathematics; D008722:Methods; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*