6个线粒体DNA SNP的微测序技术检测及群体遗传学研究

摘要

Objective:To establish a multiplex genotyping system of mtDNA SNP using SNaPshot kit and to obtain the popula-tion genetic data in Sichuan Han population. Methods:A total of 6 mtDNA SNP loci,including 709,6455,10398,12705,14569 and 15043,were multiple amplified and then used as templates for the minisequencing reaction with SNaPshot kit. The products of minisequencing reaction were detected by capillary electrophoresis. Results:All of the mtDNA SNP are polymorphic in Chinese. A total of 12 haplotypes were found,the haplotype diversity was calculated to be 0. 990 7. Conclusion:The mtDNA SNP co-amplification sys-tem is efficient and appears to be suitable for forensic science.%目的：：应用SNaPshot技术建立一个检测6个线粒体DNA( mitochondrial DNA,mtDNA)单核苷酸多态性( single nucleotide polymorphism,SNP)的复合检测系统,并利用其对四川地区140名汉族无血缘关系个体进行群体遗传学研究。方法：选择mtDNA上709、6455、10398、12705、14569和15043等6个SNP位点进行复合扩增,利用荧光标记单碱基延伸技术( SNaP-shot kit)结合毛细管电泳技术对SNP进行检测。结果：6个SNP位点均具有遗传多态性,在140名个体中检测到12种单体型,单体型多样性为0．7638。结论：该复合检测系统能快速而准确的对样本进行分型,在法医学实践中具有应用价值。