Y-STR基因座DYS718在山西汉族人群中的遗传多态性及法医学应用

发布时间：2018-01-31 07:13

本文关键词： 遗传多态性短串联重复(STR) Y染色体 DYS718　出处：《山西医科大学》2008年硕士论文　论文类型：学位论文

【摘要】： 目的本文对山西汉族群体Y-STR DYS718基因座的等位基因频率分布进行调查,为群体遗传学、法医学个体识别及亲子鉴定提供基础数据.并对该基因座的法医学应用价值进行可行性探讨。方法(1)样本采集:随机抽取116例山西汉族男性无关个体静脉血500ul,EDTA抗凝,进行DYS718基因座等位基因频率分布调查;采集同一例健康男性尸体的血液、肌肉、心脏、肝脏、肾脏组织进行同一性测验;采集20例女性个体血进行男性特异性检验;采集15例两代家系血进行突变观察;采集5例常见雄性动物血液进行种属特异性观察。(2)用酚-氯仿法提取DNA,PCR扩增,8%非变性聚丙烯酰胺凝胶电泳,硝酸银染色分型。(3)测序和命名:对其所有等位基因测序,构建等位基因分型标准物。按照ISFG原则命名等位基因。(4)数据处理:基因座的等位基因频率采用直接计算法。在GDB数据中查找候选基因座;在重复序列两端设计引物;用PCR方法扩增;电泳分型;对其所有等位基因测序;构建等位基因分型标准物;按照ISFG原则命名等位基因。结果本文研究显示:DYS718基因座核心序列为tta,被调查的山西地区汉族男性个体核心序列的重复次数为14～17,共4个等位基因:14、15、16、17。基因频率分别为0.1207、0.3621、0.4138、0.1034,基因多样性为0.6782,个人识别能力(DP)和非父排除率(PE)均为0.6782。(2)20例女性样本DNA无扩增产物。(3)同一尸体血液,器官组织检测结果分型一致。(4)15例两代家系观察未见突变。结论DYS718基因座在山西汉族男性人群中有较好的多态性,并具有较好的个人识别能力和非父排除率,可用于法医学的混合斑分析和父系亲属间的亲权关系鉴定。
[Abstract]:Objective to investigate the allele frequency distribution of Y-STR DYS718 locus in Shanxi Han population. Forensic individual identification and paternity test provide basic data. The feasibility of forensic application of this locus is also discussed. Methods 1) sampling: the allelic frequency of DYS718 locus was investigated in 116 unrelated individuals of Han nationality in Shanxi province, and the anticoagulant activity of EDTA in venous blood was investigated. The blood, muscle, heart, liver and kidney tissues of the same healthy male cadaver were collected for identity test. Blood samples were collected from 20 female individuals for male specificity test. 15 cases of blood samples from two generations of families were collected for mutation observation. Blood samples from 5 common male animals were collected for species-specific observation. The DNA was extracted by phenol-chloroform method to amplify 8% non-denatured polyacrylamide gel electrophoresis by PCR. Silver nitrate staining typing. 3) sequencing and naming: all its alleles were sequenced. Construction of allelic genotyping standard material. According to ISFG principle named allele. 4) data processing: allele frequency of locus was calculated directly. Candidate loci were searched in GDB data. Primers were designed at both ends of the repeat sequence; PCR method was used to amplify; Electrophoretic typing; All alleles were sequenced. Construction of allelic genotyping standard; Alleles were named according to ISFG principle. Results in the present study, the core sequence of the 1: DYS718 locus is tta.The number of repeats of the core sequence of the male population of Shanxi Han nationality is 1417, with four alleles: 14. 14. The gene frequencies were 0.1207, 0.3621, 0.4138 and 0.1034, respectively. The gene diversity was 0.6782. Personal recognition ability (DPN) and non-paternal exclusion rate (PEE) were 0.6782.02 / 20 female samples without DNA amplification products. 3) the same blood was found in the same cadaveric body. The results of organ and tissue examination were consistent. 15 cases of two generations were observed and no mutation was observed. Conclusion DYS718 locus has a good polymorphism in male population of Shanxi Han nationality and has good personal recognition ability and non-paternal exclusion rate. It can be used in mixed spot analysis of forensic medicine and paternity identification among paternal relatives.
【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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