山西汉族Y-STR基因座DYS510和DYS542遗传多态性及法医学应用

发布时间：2018-03-15 06:29

本文选题：法医学　切入点：Y-STR　出处：《山西医科大学》2010年硕士论文　论文类型：学位论文

【摘要】： 目的调查Y染色体上的短串联重复序列DYS510和DYS542基因座在山西汉族135例男性无关个体中的遗传多态性,建立山西人群DYS510和DYS542基因座的基因频率,并对其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135例山西汉族男性无关个体静脉血500μl,采集36例两代家系血进行突变观察；25例女性个体血进行特异性检验；采集同一例健康男性尸体的心脏、肝脏、肌肉组织等进行同一性测定。(2)方法：EDTA抗凝,用TKM1液反复洗涤至无色,蛋白酶K(20mg/ml)消化至液体清亮为止,用酚-氯仿法提取DNA,从GDB中选取Y-STR基因座并摸索适合DYS510和DYS542基因座的扩增条件进行PCR扩增,用琼脂糖电泳检测扩增产物,用8%非变性聚丙烯酰胺凝胶电泳进行等位基因分型,硝酸银染色分型。结果(1)DYS510基因座在135例山西汉族无关男性个体中共检出7个等位基因DYS510*14、DYS510*15、DYS510*16、DYS510*17、DYS510*18、DYS510*19、DYS510*20,基因频率分别是0.0222,0.0519,0.0297,0.3259,0.4000,0.1481,0.0222,基因变异度为0.7126,个人识别能力和非父排除率值均为0.7126。DYS542基因座在135例山西汉族无关男性个体中共检出5个等位基因DYS542*14、DYS542*15、DYS542*16、DYS542*17、DYS542*18,基因频率分别为0.1037、0.4000、0.3556、0.1259、0.0148,基因变异度为0.6918,个人识别能力和非父排除率值均为0.6918。与不同地区及不同民族的等位基因频率分布进行了比较均有明显的差异。(2)同一尸体血液,器官组织检测结果分型一致。(3)25例女性样本DNA无扩增产物。(4)36例两代家系观察未见突变。结论DYS510和DYS542基因座均具有较高的遗传多态性,具有较好的个人识别能力和非父排除率,对法医学的混合斑分析和父系亲属间的亲权鉴定具有一定的应用价值。
[Abstract]:Objective to investigate the genetic polymorphisms of short tandem repeat (DYS510) and DYS542 loci on Y chromosome in 135 unrelated male individuals of Shanxi Han nationality, and to establish the gene frequency of DYS510 and DYS542 loci in Shanxi population. The feasibility of its application in forensic medicine was discussed. Methods 1) sampling: the venous blood of 135 unrelated individuals of Han nationality in Shanxi province was collected randomly, 36 blood samples of two generations were collected for mutation observation, 25 cases of female individual blood were tested for specificity test, and the heart and liver of the same healthy male cadaver were collected. Methods: EDTA anticoagulant, washed repeatedly with TKM1 solution to colorless, protease KG / ml digested to clear liquid, DNA was extracted by phenol-chloroform method. Y-STR loci were selected from GDB and the conditions suitable for amplification of DYS510 and DYS542 loci were explored for PCR amplification. The products were detected by agarose electrophoresis and alleles were classified by 8% non-denatured polyacrylamide gel electrophoresis. Silver nitrate staining. Results A total of 7 alleles, DYS5101014DYS5101015, DYS5101016DYS51017, DYS5101017, DYS51018DYS51010, 19DYS51020, were detected in 135 unrelated male individuals of Han nationality in Shanxi Province. The gene frequencies were 0.0222n0.05190.0297ng0.32590.40000.1481n 0.0222.The degree of variation was 0.7126.DYS542 gene locus was 0.7126.DYS542 gene locus was found in 135 cases in Shanxi, and the genetic variation was 0.71260.126.DYS542 gene locus was 0.7126.DYS542 gene locus in 135 cases in Shanxi Province. A total of 5 alleles, DYS542N14, DYS542A15, DYS542H16, DYS542A17, DYS542O18, were detected in unrelated Han males, with gene frequencies of 0.1037 70.46000, 0.35560.12590.0148. the genetic variation was 0.6918. the individual recognition ability and non-paternal exclusion rate were both 0.6918. There were significant differences between the two groups. (2) the same cadaveric blood, The results of organ and tissue examination were consistent with those of 25 female samples. There was no DNA amplification product. 36 cases of two generations were observed and no mutation was observed. Conclusion both DYS510 and DYS542 loci have higher genetic polymorphisms, better personal identification ability and non-paternal exclusion rate, and have certain application value for forensic mixed spot analysis and paternity identification between 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】：2010
【分类号】：D919

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