Li Shuangshuang, Zhang Yingxin, Fan Chengming, Chen Yuhong, Deng Chuanliang, Hu Zanmin
College of Life Sciences, Henan Normal University, Xinxiang 453007, Henan, China.
Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China.
Sheng Wu Gong Cheng Xue Bao. 2018 Jun 25;34(6):852-861. doi: 10.13345/j.cjb.170451.
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.
单倍型是一系列共存于一条染色体上的基因突变的组合，其中每个基因突变都有其独特的单倍型。作为一种常见的数据分析方法，单倍型分析对于单条染色体上杂合SNP的定位、疾病基因的挖掘以及疾病治疗方法的探寻是有效的。它主要包括间接计算推断法和直接实验法。在本综述中，我们介绍了各种单倍型分析方法及其应用，尤其是两种重要的方法：单分子稀释法和保持邻接性转座测序通用技术。同时，还提出了单倍型测序的进一步研究前景。
