山西汉族人群DYS460多态性及其法医学应用研究

发布时间：2018-11-16 06:53

【摘要】：目的调查Y染色体上的短串联重复序列DYS460(A7.1)基因座在山西汉族人群基因频率分布、多态性及群体差异情况，以及建立DYS460基因座的分型方法。为其法医学应用、DNA数据库建立、群体遗传学提供基础数据。方法 (1)样本采集：随机抽取100例山西汉族男性无关个体静脉血500ul，采集15例两代家系血进行突变观察；20例女性个体血进行男性特异性检验；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，PCR扩增，8％非变性聚丙烯酰胺凝胶电泳，硝酸银染色分型。(3)数据处理：基因座的等位基因频率采用直接计算法，与其他人群比较采用x~2检验计算。结果 (1)100例山西汉族人群DYS460基因座共检出4种不同的等位基因，分别为DYS460*9(0.20)、DYS460*10(0.35)、DYS460.11(0.32)、DYS460*12(0.12)，基因多样性为0.7214，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)20例女性样本DNA无扩增产物。(4)15例两代家系观察未见突变。结论 DYS460基因座在山西汉族男性人群中有较好的多态性，其等位基因分布在不同地区、不同人群有差异性，对法医学应用、人类遗传学等研究具有重要价值。
[Abstract]:Objective to investigate the frequency distribution, polymorphism and population difference of DYS460 (A7.1) locus on Y chromosome in Shanxi Han population, and to establish the method of DYS460 locus typing. For its forensic application, the establishment of DNA database, population genetics to provide basic data. Methods (1) sampling: the venous blood was collected from 100 unrelated individuals of Han nationality in Shanxi province at random, 15 blood samples from two generations were collected for mutation observation, and 20 blood samples from female Han nationality were tested for male specificity. The identity of heart, liver and muscle tissues of the same healthy male cadaver was determined. (2) methods: EDTA anticoagulant, washed repeatedly with TKM1 solution to colorless, proteinase K (20mg/ml) digested to clear liquid. DNA,PCR was extracted by phenol-chloroform method, 8% non-denatured polyacrylamide gel electrophoresis, silver nitrate staining and typing. (3) data processing: allelic frequency of locus was calculated directly. Compared with other population, XG 2 test was used. Results (1) four different alleles were detected in the DYS460 loci of 100 Han people in Shanxi Province. They were DYS460*9 (0.20), DYS460*10 (0.35), DYS460.11 (0.32), DYS460*12 (0.12). The genetic diversity was 0.7214, which was significantly different from the allele frequency distribution in different regions and nationalities. (2) the same cadaveric blood. The results of organ and tissue examination were consistent. (3) there was no amplified product of DNA in 20 female samples. (4) there was no mutation observed in 15 cases of two generations of pedigree. Conclusion DYS460 locus has a good polymorphism in the male population of Shanxi Han nationality. The alleles of DYS460 locus are distributed in different regions and different populations, which is of great value for forensic application, human genetics and so on.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2006
【分类号】：D919

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