法医学杂志 ›› 2007, Vol. 0 ›› Issue (1): 30-32.

• 论文 • 上一篇    下一篇

PCR结合变性梯度凝胶电泳法检测人血mtDNA HVⅡ

翟仙敦;黄代新;尹慧;杨庆恩;   

  1. 华中科技大学同济医学院法医学系,华中科技大学同济医学院法医学系,华中科技大学同济医学院法医学系,华中科技大学同济医学院法医学系 湖北武汉430030,河南科技大学法医学系,河南洛阳471003,湖北武汉430030,湖北武汉430030,湖北武汉430030
  • 发布日期:2007-02-25 出版日期:2007-02-28

Haplotype and Heteroplasmy in the HVⅡ Region of mtDNA in Human Blood Detected by PCR-DGGE

ZHAI XIAN-DUN1,2,HUANG DAI-XIN1,YIN HUI1,YANG QIN-EN1(1.DEPARTMENT OF FORENSIC MEDICINE,TONGJI MEDICAL COLLEGE,HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY,WUHAN 430030,CHINA;2.DEPARTMENT OF FORENSIC MEDICINE,HENAN UNIVERSITY OF SCIENCE AND TECHNOLOGY,LU   

  • Online:2007-02-25 Published:2007-02-28

摘要: 目的建立简单、有效的mtDNA单倍型检测及异质性筛查技术,并获取其相应的汉族人群频率分布。方法用PCR结合变性梯度凝胶电泳(DGGE)技术对200例武汉汉族无关个体外周血mtDNA HVⅡ29~290nt区域进行分型检测。结果200例汉族无关个体中,检出17种单倍型,其单倍型多样性(HD值)为0.8826;有4名个体观察到异质性,其发生率为2%。结论PCR-DGGE是一种简单、灵敏、高效的mtDNA多态性及异质性检测技术,可应用于法医学实践。

关键词: 线粒体DNA, 变性梯度凝胶电泳, 单倍型, 异质性

Abstract: Objective To establish a simple and effective technique for detecting haplotype and heteroplasmy of mtDNA,and investigate their frequencies in Chinese Han population.Methods The fragments from 29~290 nt of mtDNA HVⅡ from peripheral leukocytes of 200 unrelated Wuhan Han individuals were analyzed by using PCR-DGGE technique.Results Seventeen haplotypes were found in the range of 29~290 nt,and the haplotype diversity(HD) was 0.884 4.The heterogeneity was observed from 4 individuals,and its frequency was 2%.Conclusion PCR-DGGE is a simple,sensitive and effective technique in analyzing polymorphism and heteroplasmy of mtDNA,and can be used in forensic practice.

Key words: mtDNA, denaturing gradient gel electrophoresis, Haplotype, Heteroplasmy