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目的建立基于SNaPshot Kit的线粒体上7个单核苷酸多态性(SNP)位点快速、准确的检测方法,并利用该方法对四川地区85个汉族男性无关个体进行群体遗传学研究。方法对4216、7028、10398、10400、12308、12705、14766共7个mt-SNP位点进行复合扩增,采用SNaPshot Kit结合毛细管电泳技术对SNP进行检测。结果建立了7个mt-SNP位点的微测序快速检测系统,在四川地区人群中发现10400、12705和10398位点存在变异,共发现有4种单体型。结论复合扩增结合微测序技术能够同时对多个mt-SNP的多态性进行快速、准确的检测,在法医学实践中有一定应用价值。
OBJECTIVE: To establish a rapid and accurate method for detecting seven single nucleotide polymorphisms (SNPs) in mitochondria based on SNaPshot Kit, and to use this method to do population genetic studies on 85 Han unrelated individuals in Sichuan Province. Methods A total of 7 mt-SNP sites of 4216, 7028, 10398, 10400, 12308, 12705 and 14766 were amplified by multiplex PCR. SNP was detected by SNaPshot Kit combined with capillary electrophoresis. Results A rapid micro-sequencing detection system for seven mt-SNP loci was established. In the population of Sichuan Province, 10400, 12705 and 10398 loci were found to be mutated, and four haplotypes were found. Conclusion Multiplex amplification combined with micro-sequencing technology can detect multiple and simultaneous polymorphisms of multiple mt-SNPs at the same time and has certain value in forensic practice.