Zhao Hongyu, Pfeiffer Ruth, Gail Mitchell H
Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, CT 06520, USA.
Pharmacogenomics. 2003 Mar;4(2):171-8. doi: 10.1517/phgs.4.2.171.22636.
Several studies of haplotype structures in the human genome in various populations have been published recently. Such knowledge may provide valuable information on human evolutionary history and lead to the development of more efficient strategies to identify genetic variants that increase susceptibility to human diseases. In this review, we summarize the current understanding of haplotype structure, diversity, and distribution in the human genome, with a focus on statistical issues in using haplotypes for studies of population genetics and evolutionary history, as well as to identify genetic variants underlying complex human traits.
最近已经发表了几项关于不同人群人类基因组单倍型结构的研究。这些知识可能为人类进化史提供有价值的信息,并有助于开发更有效的策略来识别增加人类疾病易感性的基因变异。在这篇综述中,我们总结了目前对人类基因组中单倍型结构、多样性和分布的理解,重点关注在利用单倍型进行群体遗传学和进化史研究以及识别复杂人类性状潜在基因变异时的统计学问题。