单倍型分析技术研究进展

作者：王韵壹、李英、熊慧卿

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李双双, 张迎新, 范成明, 等. 单倍型分析技术研究进展. 生物工程学报, 2018, 34(6): 852-861

Li SS, Zhang YX, Fan CM, et al. Advances in haplotype analysis technique. Chinese Journal of Biotechnology, 2018, 34(6): 852-861.

单倍型分析技术研究进展

李双双1,2, 张迎新2,3, 范成明2, 陈宇红2, 邓传良1

单倍型分析技术研究进展

, 胡赞民2,3

单倍型分析技术研究进展

1 河南师范大学生命科学学院, 河南新乡 453007;
2 中国科学院遗传与发育生物学研究所, 北京 100101;
3 中国科学院大学, 北京 100049

收稿日期：2017-11-16; 接收日期：2018-01-19

基金项目：国家转基因专项(No.2014ZX0801006B), 国家自然科学基金(No.31170209), 国家重点研发计划(No.2016YFD0102003-10)资助

摘要：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。

关键词：单倍型单倍型分析技术间接推断法直接实验法单倍型组装

Advances in haplotype analysis technique

Shuangshuang Li1,2, Yingxin Zhang2,3, Chengming Fan2, Yuhong Chen2, Chuanliang Deng1

单倍型分析技术研究进展

, Zanmin Hu2,3

单倍型分析技术研究进展

1 College of Life Sciences, Henan Normal University, Xinxiang 453007, Henan, China;
2 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China;
3 University of Chinese Academy of Sciences, Beijing 100049, China

Received: November 16, 2017; Accepted: January 19, 2018

Supported by: National Transgenic Programme (No.2014ZX0801006B), National Natural Science Foundation of China (No.31170209), National Key Research and Development Plan from Ministry of Science and Technology of China (No.2016YFD0102003-10)

Corresponding author: Chuanliang Deng.E-mail:550359655@qq.com
Zanmin Hu.Tel:+86-10-64807626; E-mail:zmhu@genetics.ac.cn

Abstract: 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.