Y染色体STR基因座DYS521在山西汉族人群中遗传多态性研究

发布时间：2018-09-01 15:22

【摘要】： 目的本文调查了Y-STR基因座DYS521在山西汉族人群中的等位基因频率分布,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Y染色体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120例山西汉族男性无关个体静脉血进行等位基因频率调查;随机抽取20例山西女性血样进行阴性对照;采集50例两代家系血样进行突变观察;采集同一例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)用有机法提取基因组DNA;PCR扩增;非变性聚丙烯酰胺凝胶(PAGE)电泳分离,硝酸银染色分型后保存。(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)收集并处理数据。结果在120例山西汉族男性中DYS521基因座检测出4个等位基因,分别是DYS521*14、DYS521*15、DYS521*16和DYS521*17;基因频率分别为0.1500、0.5083、0.2167和0.1250。在山西汉族群体中,基因座DYS521的基因多样性为0.6565,其个人识别率(DP)和非父排除率(PE)为0.6565。20例女性对照无扩增产物且50例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产物。结论Y染色体STR基因座DYS521在山西汉族男性人群中有较好的基因多态性和稳定性,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 to investigate the allele frequency distribution of Y-STR locus DYS521 in Shanxi Han population, and to provide basic data for population genetics, forensic individual identification and paternity test. The feasibility of the Y chromosome locus in forensic medicine was discussed. Methods (1) sampling: 120 unrelated individuals of Han nationality in Shanxi were randomly selected for allele frequency investigation, 20 female blood samples were collected randomly for negative control, and 50 blood samples from two generations were collected for mutation observation. The blood and tissue organs of the same male cadaver were collected for homogeneity observation, and the blood samples of 3 common male animals were collected for species-specific observation. (2) Genomic DNA;PCR was extracted by organic method, and non-denatured polyacrylamide gel (PAGE) electrophoresis was used to isolate the DNA. (3) sequencing and naming: all alleles were sequenced, alleles were constructed, alleles were named according to ISFG principle. (4) data were collected and processed. Results four alleles of DYS521 loci were detected in 120 Han males in Shanxi Province. The frequencies of DYS521*14,DYS521*15,DYS521*16 and DYS521*17; genes were 0.1500 and 0.5083, 0.2167 and 0.1250, respectively. In Shanxi Han population, the gene diversity of DYS521 locus was 0.65655.The individual recognition rate (DP) and non-paternal exclusion rate (PE) were 0.6565.20 female controls without amplified products and 50 families with no mutation. No specific amplification products were observed in the blood samples of the same male individuals, and the results of tissue and organ tests were consistent with those of the blood samples of 3 animals. Conclusion Y chromosome STR locus DYS521 has good genetic polymorphism and stability in male population of Shanxi Han nationality. The obtained data 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】：2009
【分类号】：D919

【相似文献】