南方汉族群体Y-STR和Y-SNP系统的研究和法医学应用

发布时间：2018-03-24 05:18

本文选题：Y染色体　切入点：STR　出处：《山西医科大学》2007年硕士论文

【摘要】： 目的:Y染色体多态性DNA遗传标记可以追溯人类的起源和进化。越来越多的人类学家,应用Y染色体多态性DNA遗传标记,通过计算不同群体间的遗传距离和进行聚类分析,来揭示不同群体的起源、进化、迁移和亲缘关系。同时在法医学实践中,Y染色体DNA分析研究结果,可提高性犯罪案中混合斑迹男性物质的分离率,父系亲属间亲权关系鉴定,增加个人识别能力和非父排除能力,具有独特优势。本研究还为保存、丰富中国南方汉族的基因提供了信息资源。方法:本研究选择了DYS19,DYS389Ⅰ,DYS389Ⅱ,DYS390,DYS391,DYS392,DYS393,DYS385a,b,DYS437,DYS438和DYS439共计11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YCC系统树中的几个主要分支选择了92R7、M103、M110、M111、M117、M119、M120、M122、M128、M130、M134、M139、M159、M15、M168、M175、M176、M178、M17、M214、M217、M231、M3、M45、M5、M50、M60、M7、M8、M88、M89、M9、M91、M95、M98、RPS4Y、SRYl532等37个SNP片段,应用PCR扩增直接测序方法得到38个SNP位点。研究了我国南方汉族50个样本的Y-STR和Y-SNP扩展单倍型。并应用统计学方法与50个北方汉族样本的结果进行比较。结果:获得了南方汉族Y-STR和Y-SNP的等位基因及单倍型频率多态性分仃资料。50个男性无关个体,共检测到了48种单倍型。11个Y-STR基因座共检测到47种单倍型及2/1个等位基因,基因频率分布在0.02-0.68之间,基因多样性值(GD)分布在0.4772-0.9526之间;38个SNP位点共检测到18种单倍型。结论:直接测序法可以测定序列中的单个碱基,十分准确、清晰的反应出变异,大大增强了结果的分析性和可靠性,为法医学混合斑中男性成分的个体识别和父系亲缘关系鉴定提供了新的技术方法,具有实用价值。统计结果数据表明,北方汉族与南方汉族在Y染色体遗传基因上的遗传距离较远。这对于进一步开发、利用中国汉族遗传信息资源,具有广泛的意义。
[Abstract]:Objective\\\. In order to reveal the origin, evolution, migration and kinship of different populations. Meanwhile, in forensic practice, the results of Y chromosome DNA analysis can improve the separation rate of mixed spot male substances and paternity identification among paternal relatives in sexual crime cases. This study also provides information resources for preserving and enriching the genes of Han nationality in southern China. Methods: a total of 11 DYS438 and DYS392DYS392DYS392DYS392DYS392DYS392DYS392DYS392DYS392DYS392DYS392DYS437DYS438 and DYS437DYS438 were selected. The Y-STR loci were amplified by PCR and separated by capillary electrophoresis. The Y-STR loci were sequenced from several main branches of the YCC system. 38 SNP loci were obtained by PCR amplification and direct sequencing. The Y-STR and Y-SNP extended haplotypes of 50 Han nationality samples from southern China were studied and compared with 50 samples of northern Han nationality by statistical method. Results: the data of allele and haplotype frequency polymorphism of Y-STR and Y-SNP in Southern Han nationality were obtained. 48 haplotypes were detected in 50 unrelated males and 47 haplotypes and 2 / 1 alleles were detected in 11 Y-STR loci. The gene frequency was between 0.02-0.68 and the gene diversity was between 0.4772-0.9526. 18 haplotypes were detected at 38 SNP loci. Conclusion: the direct sequencing method can be used to determine the single base in the sequence. It is very accurate and clearly reflects the variation, which greatly enhances the analytical and reliability of the results. It provides a new technical method for individual identification of male component and paternal kinship identification in mixed spot of forensic medicine, which is of practical value. The genetic distance between the northern Han and the southern Han on the Y chromosome is relatively long, which is of great significance for the further development and utilization of the genetic information resources of the Han nationality in China.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2007
【分类号】：D919

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