单倍型分析技术研究进展

单倍型是指共存于单条染色体上的一系列遗传变异位点的组合,每条染色体都有自己独特的单倍型。单倍型分析技术作为一种常用的数据分析方法,是寻找单染色体上杂合SNP变异位点的有效方法,也对挖掘致病基因、寻找疾病治疗新方法有重要作用。它主要包括间接推断法和直接实验法。文中介绍了各种单倍型分析方法及应用,尤其详细介绍了单分子稀释法和保留邻近性的转座酶测序法,同时对单倍型分析技术的应用前景进行了展望。

Advances in haplotype analysis technique

Haplotype is the combination of a series of genetic mutations that coexist on a single chromosome, each of which has its own unique haplotypes. As a common data analysis method, the analysis of haplotype is effective for the localization of heterozygosis SNPs on single chromosome, the excavation of disease genes and the search of maladies treatments. It mainly includes indirect computational inferential method and direct experimental method. In this review we introduced various haplotype analysis methods and applications, especially two important ones: single-molecule dilution and contiguity-preserving transposition sequencing common technology. Meanwhile, further research prospects on haplotype sequencing were proposed.