Y-STR基因座DYS716和DYS721在山西汉族人群中的遗传多态性及法医学应用

发布时间：2018-03-26 07:29

本文选题：Y-STR　切入点：山西　出处：《山西医科大学》2008年硕士论文

【摘要】： 目的由于Y染色体遗传标记多态性较低,需要寻找更多的基因座以用于遗传学分析。本实验从染色体基因座中筛选出两个新的Y-STR基因座DYS716和DYS721,调查这两个基因座在山西汉族人群中的等位基因频率及单倍型分布,并对这两个新基因座在法医学上的应用进行可行性探讨。方法(1)样本采集:随机抽取114例山西汉族健康男性无关个体静脉血进行等位基因频率及单倍型调查;随机抽取20例山西健康女性血样进行阴性对照;采集20组两代家系血样进行突变观察;采集同一例健康男性尸体的血液和组织器官进行同一性观察;采集3例常见雄性动物血液进行种属特异性观察。(2)用有机溶剂提取法提取基因组DNA;根据GDB基因库提供的引物序列合成引物。(3) PCR扩增后,进行扩增产物的非变性聚丙烯酰胺凝胶(PAGE)电泳分离和硝酸银染色分型。(4)计算其法医学参数。结果研究发现这两个基因座DYS716和DYS721在114例山西汉族男性群体中均检测出5个等位基因,它们分别是DYS716*15、DYS716*16、DYS716*17、DYS716*18和DYS716*19;DYS721*9、DYS721*10、DYS721*11、DYS721*12和DYS721*13;DYS716的等位基因频率分别为0.0263、0.1754、0.5263、0.2456和0.0263;DYS721的等位基因频率分别为0.0526、0.5351、0.2193、0.1842和0.009。在山西汉族群体中,基因座DYS716的基因多样性(GD)为0.6361,其个人识别能力(DP)和非父排除率(PE)为0.6361;基因座DYS721的基因多样性(GD)为0.6344,其个人识别率(DP)和非父排除率(PE)为0.6344。单倍型的多样性(HD)为0.8810。20例女性对照无特异性扩增产物且20组两代家系调查无突变。同一男性个体血液、组织器官检测结果分型一致。3例动物血样中均未观察到特异性扩增。结论DYS716和DYS721在山西汉族男性群体中均有较好的遗传多态性和稳定性,所得到的数据可为山西汉族人群法医学个人识别、亲子鉴定及遗传学研究提供依据。
[Abstract]:Objective because of the low polymorphism of Y chromosome, Two new Y-STR loci, DYS716 and DYS721, were screened from chromosome loci to investigate the allele frequency and haplotype distribution in Shanxi Han population. The feasibility of these two new loci in forensic medicine was discussed. Methods 1) sampling: the allele frequency and haplotype were investigated in venous blood of 114 unrelated individuals of Han nationality in Shanxi, and 20 healthy female blood samples were collected randomly for negative control. Two generations of blood samples of 20 groups were collected for mutation observation, and the blood and tissue organs of the same healthy male cadaver were collected for identity observation. Three common male animals were collected for species-specific observation. The genomic DNAs were extracted by organic solvent extraction method. The primers were synthesized according to the primer sequence provided by GDB gene bank. The primers were amplified by PCR. The polyacrylamide gel electrophoresis separation and silver nitrate staining were performed to calculate the forensic parameters. Results the two loci, DYS716 and DYS721, were found to have 5 alleles in 114 Han male populations in Shanxi Province. They were DYS716, DYS716, 16DYS716, 17DYS71618 and DYS71616, DYS7219DYS72110, DYS72111, DYS72112 and DYS7213DYS716, respectively. The alleles frequencies of DYS716 and DYS716 were 0.02630.1750.52630.2456 and 0.0263DYS721, respectively. The allele frequencies of DYS721 and DYS716 were 0.05263510.219330.1842 and 0.00992, respectively. The genetic diversity of locus DYS716 is 0.6361, and its personal recognition ability and non-paternal exclusion rate are 0.6361, and the gene diversity of locus DYS721 is 0.6344, the personal identification rate and non-paternal exclusion rate are 0.6344. The diversity HDD of haplotype is 0.8810.20 cases. There was no specific amplification product in female control and no mutation was found in 20 groups of two generations. No specific amplification was observed in the blood samples of 3 animals. Conclusion both DYS716 and DYS721 have good genetic polymorphism and stability in the male population of Shanxi Han nationality. The data obtained can provide evidence for forensic personal identification, paternity test and genetic research of Shanxi Han population.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2008
【分类号】：D919

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