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PCR结合变性梯度凝胶电泳法检测人血mtDNA HVⅡ
作者姓名:Zhai XD  Huang DX  Yin H  Yang QE
作者单位:1. 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
2. 华中科技大学同济医学院法医学系,湖北,武汉,430030
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
文章编号:1004-5619(2007)01-0030-03
修稿时间:2006年7月31日

Haplotype and heteroplasmy in the HV II region of mtDNA in human blood detected by PCR-DGGE
Zhai XD,Huang DX,Yin H,Yang QE.Haplotype and heteroplasmy in the HV II region of mtDNA in human blood detected by PCR-DGGE[J].Journal of Forensic Medicine,2007,23(1):30-32.
Authors:Zhai Xian-dun  Huang Dai-xin  Yin Hui  Yang Qin-en
Institution:Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China. sanmao506@163.com
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 HV II 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 0.8844. 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.
Keywords:mtDNA  denaturing gradient gel electrophoresis  Haplotype  Heteroplasmy
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