摘要
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 robust assay to simultaneously genotype mitochondrion SNPs by single nucleotide primer extension （minisequencing） with the SNaPshot Kit and to obtain the population genetic data in Chinese population in Sichuan. Methods A total of 7 mt-SNPs, 4216,7028,10398,10400,12308,12705,14766, were multiple amplified, and then used as templates for the minisequencing reaction with the commol/Lercially available SNaPshot Kit. Then the products of minisequencing reaction were detected by capillary elcetrophoresis. Results A total of 85 mitochondrion DNA individual samples from Sicbuan were analyzed and four haplotypes could be identified. Conclusion A rapid method has been established to analyze the 7 mt-SNPs by multiplex PCR and minisequencing.
出处
《中国输血杂志》
CAS
CSCD
北大核心
2009年第6期450-453,共4页
Chinese Journal of Blood Transfusion
基金
四川省科技厅课题应用基础资助项目(编号:2008JY0127)
