荧光标记线粒体DNA SNPs检测体系建立及单倍型频率调查  

Establishment of Typing for Mitochondrial DNA SNPs and Investigation of Haplotype Frequency

作　　者：何琼[1] 刘长晖[2] 王慧君[1] 刘超[2] 

机构地区：[1]南方医科大学法医学系,广东广州510515 [2]广州市刑事科学技术研究所,广东广州510030

出　　处：《中山大学学报（医学科学版）》2011年第1期104-108,共5页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：国家十一五科技支撑计划(2006BAK07B01);公安部重点科技攻关项目(20034421401)

摘　　要：【目的】利用荧光标记-单碱基延伸技术建立线粒体DNA SNPs高通量检测体系并应用于法医学检案。【方法】从线粒体DNA上选择18个SNPs(16个位于编码区和2个控制区)位点,自行设计PCR引物和单碱基延伸引物并结合毛细管电泳,实现对线粒体多个SNPs位点的高通量检测。【结果】建立了18个线粒体DNA SNPs复合检测体系,并调查这18个SNPs位点在广东地区汉族人群的单倍型频率。【结论】所建立的线粒体SNPs复合检测体系,在法医学应用中具有良好的应用前景。【Objective】 To develop the method typing SNPs of mitochondrial DNA with fluorescence labeling and apply to the forensic science practice.【Methods】 Eighteen SNPs selected from mtDNA（16 SNPs in the coding region and 2 SNPs in the control region） were studied the rules of of primers′ design multiplex system and multiplex sequencing system then carried out capillary electrophoresis.【Results】 The 18-plex mitochondrial DNA SNPs minisequencing reaction was developed and the data of SNP haplotype frequency in Guangdong Han population was obtained.【Conclusion】 The multiplex amplication of mitochondrial DNA SNPs was established and showed that the system has a favorable prospective in the forensic science.

关 键 词：单核苷酸多态性(SNPs) 线粒体 复合扩增 微测序 毛细管电泳 

分 类 号：R89[医药卫生—法医学]