法医学杂志 ›› 2009, Vol. 0 ›› Issue (2): 133-137.

• 论文 • 上一篇    下一篇

单倍型的分析及其法医学应用

叶懿;罗海玻;侯一平;   

  1. 四川大学华西基础医学与法医学院物证教研室;
  • 发布日期:2009-04-25 出版日期:2009-04-28

Analysis and Application of Haplotype in Forensic Medicine

YE YI, LUO HAI-BO, HOU YI-PING (DEPARTMENT OF FORENSIC BIOLOGY, WEST CHINA SCHOOL OF PRECLINICAL AND FORENSIC MEDICINE, SICHUAN UNIVERSITY, CHENGDU 610041, CHINA)   

  • Online:2009-04-25 Published:2009-04-28

摘要: 单倍型是指一条染色体或者线粒体上紧密连锁的多个等位基因的线性排列,作为一个整体遗传给子代。国际单倍型图谱计划已于2002年启动,该计划的目标在于通过测定序列变异特征、变异频率及其相互关联,绘出人类基因组的"单倍型区块",以及不同区块的标记SNP。本文介绍了单倍型的形成与分布及其3种分析方法:实验法、系谱推断和统计算法。当等位基因间存在连锁不平衡的关系时,法医学中的各种概率要以等位基因组成的单倍型来统计。单倍型的重要性已被人们所认识,其在法医学中的应用已经逐步开展起来,主要集中在Y染色体、线粒体和X染色体,作为DNA遗传标记的重要补充。

关键词: 法医遗传学, 单倍型, 综述[文献类型]

Abstract: Haplotype is a lineable combination of alleles at multiple loci that are transmitted together on chromosome or mitochondrion. In October 2002, the international HapMap project started and aimed at mapping the haplotype blocks of human being and discovering the Tag SNPs by determining the DNA sequence variation patterns, variation frequency and their relationship. This review summarizes the formation and distribution of the haplotype and the current three haplotype-analysis methods including the methodology of experiment, the deduction from pedigrees and the statistic method. When an allele linkage disequilibrium occurs, the genetic probability would be evaluated by haplotype. The importance of haplotype has been recognized and its application has been gradually increased in forensic sciences. The current focus on haplotype study in forensic science involves Chromosome Y, Mitochondrial DNA and Chromosome X, which are useful supplements of genetic marks.

Key words: forensic genetics, haplotype, review[publication type]