山西汉族人群Y-STR基因座DYS576和DYS641遗传多态性及法医学应用

发布时间：2018-05-18 13:25

本文选题：Y-STR + 山西汉族人群　；参考：《山西医科大学》2010年硕士论文

【摘要】： 目的通过调查山西汉族人群Y-STR基因座DYS576和DYS641的遗传多态性,研究山西汉族男性人群中DYS576和DYS641基因多态性及群体分布情况,为法医学的个人识别、亲子鉴定提供参考数据,并探讨其法医学应用。方法随机抽取山西汉族人群中205例无关健康男性个体血样1ml,EDTA抗凝；采集同一例男性尸体的血液及几种组织,进行同一性检验；随机抽取山西汉族人群中30例无关健康女性个体血样1ml,EDTA抗凝,进行男性特异性检验；采集30例两代已确认亲子关系的家系血样,进行突变观察；收集常见的几种动物的个体组织或血液样本,进行种属检验。将上述材料提取基因组DNA,用基因座DYS576和DYS641的引物将提取的基因组DNA经PCR扩增,扩增产物进行聚丙烯酰胺凝胶电泳,筛出等位基因并测序,制备等位基因分型标准物Ladder;以等位基因比对Ladder进行分型,然后按照国际法医遗传学会推荐的原则命名各等位基因,最后进行数据统计分析,得出这两个基因座在山西汉族人群的多态性分布情况。结果205例山西汉族男性DYS576基因座检出7种等位基因,分别为DYS576*15,DYS576*16,DYS576*17,DYS576*18,DYS576*19,DYS576*20和DYS576*21,基因频率分别为0.0488,0.1024,0.2780,0.2439,0.2146,0.0976和0.0146,其个人识别能力(DP)和非父排出率(PE)均为0.7984；DYS641基因座检出6种等位基因,分别为DYS641*6,DYS641*7,DYS641*8,DYS641*9,DYS641*10,DYS641*11,基因频率分别为0.0927,0.4780,0.0634,0.1024,0.2098和0.0537,其个人识别能力(DP)和非父排出率(PE)均为0.7050；由这2个基因座构成的单倍型在205名山西汉族男性个体中共发现28种,基因变异度为0.9423,其个人识别能力(DP)和非父排出率(PE)均为0.9423；同一男性尸体的血液及各种组织检测结果与2个基因座分型分别一致；30例女性样本DNA未见扩增产物；30例两代家系观察未见突变；动物检测未见扩增产物。结论DYS576和DYS641基因座具有较高遗传多态性,在法医学及人类遗传学方面具有较高应用价值。
[Abstract]:Objective to investigate the genetic polymorphisms of DYS576 and DYS641 in Y-STR loci in Shanxi Han population, and to study the polymorphism and distribution of DYS576 and DYS641 genes in male population of Shanxi Han nationality, so as to provide reference data for forensic personal identification and paternity test. And discuss its forensic application. Methods A total of 205 unrelated healthy male blood samples were randomly collected from Shanxi Han population, and 1ml EDTA anticoagulant, blood samples and tissues of the same male cadaver were collected for identity test. 30 unrelated healthy female blood samples from Shanxi Han population were randomly selected for anticoagulant test for male specificity test, and 30 blood samples from two generations of confirmed parent-child relationship were collected for mutation observation. Collect individual tissues or blood samples of several common animals for species testing. The genomic DNA was amplified by PCR with primers of locus DYS576 and DYS641. The amplified products were analyzed by polyacrylamide gel electrophoresis, alleles were screened and sequenced. The allelic genotyping standard material Ladder was prepared, the allele ratio was used to type Ladder, and the alleles were named according to the principles recommended by the International Forensic Genetics Association. Finally, the data were statistically analyzed. The polymorphism distribution of these two loci in Shanxi Han population was obtained. Results Seven alleles were detected in 205 Han male DYS576 loci in Shanxi Province. The alleles were DYS576A15DYS57616, DYS576H17DYS576F7 / 18DYS576F20 and DYS57621 respectively. The frequencies of the alleles were 0.04880.10240.2780 (0.2439), 0.21460.0976 and 0.0146, respectively. The individual recognition ability of DYS57616 and the non-paternal rate of PE) were 0.7984DYS641 (P) and 0.7984DYS641 (P), respectively. The alleles of DYS57641 and DYS57641 were detected. DYS641DYS641DYS641( 8DYS641n9DYS641C 10DYS64111), the gene frequencies were 0.09270.4780, 0.06340.10240.2098 and 0.0537, respectively. Their personal recognition ability and non-paternal excretion rate (PE) were 0.7050, and the haplotypes constructed by these two loci were 28 species were found in 205 Han male individuals in Shanxi Province, respectively, and the gene frequencies were 0.0927, 0.4780, 0.06340, 0.10240.2098 and 0.0537, respectively, and the non-paternal excretion rate (PEP) was 0.7050, and the two loci haplotypes were found in 205 Han males in Shanxi province. The variation of gene was 0.9423, its personal recognition ability and non-paternal excretion rate were 0.9423.The results of blood and various tissue tests of the same male cadaver were consistent with those of two locus typing in 30 female samples and 30 cases without DNA amplification products. No mutation was observed in two generations of families. No amplification products were found in animal tests. Conclusion DYS576 and DYS641 loci have high genetic polymorphisms and are valuable in forensic medicine and human genetics.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2010
【分类号】：D919

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