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7个mt-SNP的微测序技术检测及群体遗传学研究
引用本文:杜宏,王艳云,周斌,张海军,梁伟波,江继平,张林. 7个mt-SNP的微测序技术检测及群体遗传学研究[J]. 中国输血杂志, 2009, 22(6)
作者姓名:杜宏  王艳云  周斌  张海军  梁伟波  江继平  张林
作者单位:1. 四川省公安厅,刑侦局技术处,四川,成都,610041
2. 四川大学华西基础与法医学院,免疫学教研室
3. 四川大学华西第二医院,分子与转化医学实验室
4. 四川大学华西基础与法医学院,法医物证教研室
5. 四川大学华西第二医院,分子与转化医学实验室;四川大学华西基础与法医学院,法医物证教研室
基金项目:四川省科技厅课题应用基础资助项目(编号:2008JY0127)
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。

关 键 词:mt-SNP  微测序  遗传多态性  SNaPshot

A minisequencing technique for genotyping 7 mt-SNP and its genetic polymorphisms
DU Hong,WANG Yanyun,ZHOU Bin,et al.. A minisequencing technique for genotyping 7 mt-SNP and its genetic polymorphisms[J]. Chinese Journal of Blood Transfusion, 2009, 22(6)
Authors:DU Hong  WANG Yanyun  ZHOU Bin  et al.
Affiliation:DU Hong1,WANG Yanyun2,ZHOU Bin,et al3. 1. Department of Criminal Technique,Sichuan Public Security Bureau,Chengdu 610041,China,2. Department of Immunology,West China School of Preclinical , Forensic Medicine,Sichuan University,3. Laboratory of Molecular Translational Medicine,West China Second University Hospital
Abstract: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 mitochon-drion DNA individual samples from Sichuan 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 minisequeneing.
Keywords:mt-SNP  Minisequencing  Genetic polymorphisms  
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