【作者】 郭华；

【导师】 刘雅诚；

【作者基本信息】 山西医科大学 ， 法医物证学， 2008， 硕士

【摘要】 目的:Y染色体除拟常染色体区外,在遗传过程中不发生染色体重组,呈父系单倍型遗传特点,因此应用Y染色体多态性DNA遗传标记,可对不同群体间的遗传距离进行分析,从而揭示不同群体的起源、进化、迁移和亲缘关系等。同时在法医学实践中,Y染色体父系单倍型遗传特点,使其成为混合斑分析和父系亲属间亲缘关系鉴定的重要工具。本研究还为中国彝族的基因信息提供了基础数据。方法:本研究从AmpFlSTR? Y filerTM系统中选择了DYS456、DYS389Ⅰ、DYS390、DYS389Ⅱ、DYS458、DYS19、DYS385a,b、DYS393、DYS391、DYS439、DYS635、DYS392、Y GATA H4、DYS437、DYS438、DYS448共计17个Y-STR基因座,应用PCR扩增和毛细管电泳分离,得到Y-STR基因座分型。并从前期研究的课题“南方汉族群体Y-STR和Y-SNP系统的研究和法医学应用”中选择了M111、M117、M119、M122、M134、M159、M168、M175、M214、M7、M88、M89、M9、M95、RPS4Y共15个频率大于5%的SNP片段,应用PCR扩增直接测序方法得到16个SNP位点。研究了我国彝族64个样本的Y-STR和Y-SNP扩展单倍型。并应用统计学方法与汉族(南汉,北汉)、回族、维族、蒙古族、藏族样本的结果进行比较。结果:得到了彝族Y-STR和Y-SNP的等位基因及单倍型频率多态性分布资料。64个男性无关个体,共检测到了63种单倍型。17个Y-STR基因座共检测到63种单倍型及90个等位基因,基因频率分布在0.0159-0.8889之间,基因多样性值(GD)分布在0.2007-0.9002之间;16个SNP位点共检测到11种单倍型。结论:经典的直接测序法可准确的检测单个碱基的变异,可用于法医学混合斑中男性成分的个体识别及父系亲缘关系的鉴定。统计数据结果表明,彝族与回族、维族、蒙古族、北方汉族在Y染色体遗传基因上的遗传距离较近,而与藏族、南方汉族遗传距离相对较远。更多还原

【Abstract】 Objective :Genetic markers on Y chromosome passed down from father to son without any recombination except the pseudoautosomal region. In anthropology research area so much of human and evolution information could be got by analyzing genetic distance and different population clustering from Y chromosome genetic marker datas.In forensic sciences analyzing the genetic markers on Y chomosome have become a powerful tool in paternity testing and individual identification in sexual assault caseworks.Our present study provide genetic datas of 33 polymorphism systems on Y chromosome from Chinese Yi race for forensic and anthropological research.Method: We co-amplified DYS456、DYS389Ⅰ、DYS390、DYS389Ⅱ、DYS458、DYS19、DYS385a,b、DYS393、DYS391、DYS439、DYS635、DYS392、Y GATA H4、DYS437、DYS438、DYS448 STR loci .We chose M111、M117、M119、M122、M134、M159、M168、M175、M214、M7、M88、M89、M9、RPS4Y、M95 SNP markers from YCC and investigated 64 unrelated male individuals of Chinese race.Result: Among the 64 individuals, 63 haplotypes were detected. For STR markers, 90 alleles and 63 haplotypes were detected, with allele frequency ranging from 0.0159 to 0.8889 and gene diversity ranging from 0.2007 to 0.9002.For SNP investigation eleven haplotypes were detected in 16 SNP loci.Conclusion: The SNP could be phenotyed exactly by DNAsequencing. So the approach is a convenient way for paternity testing and characterization of mixed samples in forensic analysis. The statistic result showed that Northen Han, Hui, Uigur and Mongolian were more close to Yi while Tibet ,Southern Han was relatively distant to Yi and genetic distance was conducted based on Y-STR.更多还原