21-plex线粒体SNPs复合检测体系的建立及在广东地区汉族人群遗传多态性中的研究

Establishment of 21-plex mitochondrial SNPs multiple system and the study of genetic polymorphism in Guangdong Han population

目的:应用SNaPshot技术建立线粒体SNPs高通量检测体系并对广东汉族人群进行遗传多态性研究。方法:从线粒体基因组中选择21个SNPs位点,自行设计引物进行复合位点扩增,其PCR产物进行纯化和复合单碱基延伸并结合毛细管电泳,实现对线粒体多个SNPs位点的高通量检测。结果:建立了21-plex线粒体SNPs复合检测体系,并调查这21个SNPs位点在广东地区汉族人群的多态性,共检测到90种单倍型,单倍型多样性为97.1%。结论:初步研究结果显示所建立的线粒体SNPs复合检测体系,在法医学实践中具有良好的应用前景。

Objective：To establish high throughput mitochondrial DNA （mtDNA）SNPs detection system and study the genetic polymorphism of the Guangdong Han population by SNaPshot technology. Methods：In the present study,we selected 21 SNPs from mitochondrial genome,designed primers,performed PCR,co-amplified single base extension（SBE） and also combined with capillary electrophoresis. Results：Multiple detection system were successfully established. The genetic polymorphism of Guangdong Han population was investigated,and 90 haplotypes were detected in the studied population,and the haplotype diversity（HD） was 97.1%. Conclusion： The results show that the 21-plex mtDNA SNPs multiplex detection system has a pretty good application prospect in forensic medicine.