Y-STR基因座DYS719和DYS439在山西汉族人群中的多态性分布
发布时间：2018-08-11 18:30
【摘要】： 目的通过调查山西汉族120例男性无关个体两个Y-STR基因座DYS719和DYS439等位基因频率的分布,为群体遗传学、法医学个人识别及亲子鉴定提供基础数据,并对这两个Y染色体基因座在法医学上的应用价值进行可行性探讨。 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500μl,EDTA抗凝,进行DYS719和DYS439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心脏血、肝、脾、肺、肾、肌肉、皮肤组织进行同一性检验;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。(2)酚-氯仿有机溶剂法提取基因组DNA,从GDB中选取两个Y-STR基因座DYS719及DYS439,并摸索适合的扩增条件,进行PCR扩增,琼脂糖电泳检测扩增产物,8%非变性聚丙烯酰胺凝胶电泳,硝酸银染色显带。(3)测序和命名:将所有的等位基因进行测序,构建等位基因分型标准物,按照ISFG原则命名各等位基因。(4)数据处理:基因座的等位基因频率采用直接计算法。 结果DYS719基因座的核心序列为aat,重复次数为11-15,在山西汉族120例男性个体中观察到5个等位基因11、12、13、14、15,基因频率分别为0.0833、0.1333、0.2167、0.4167、0.1500,基因多样性为0.7322,个人识别率(DP)和非父排除率(PE)均为0.7322;DYS439基因座的重复序列为ctat,120例山西汉族男性人群中共观察到4个等位基因10、11、12、13,基因频率分别为0.1250、0.3833、0.3250、0.1667,基因多样性为0.7040,个人识别率(DP)和非父排除率(PE)均为0.7040。20例女性DNA未发现扩增产物,说明这两个基因座特异性均较好。检测15对父子DYS719和DYS439基因座的等位基因未发现变异。对同一男性尸体的心脏血、肝、脾、肺、肾、肌肉、皮肤组织等DNA进行检测结果为同一等位基因型,提示这两个Y-STR基因座均有较好的个人同一性。 结论DYS719和DYS439基因座均具有较高的遗传多态性,并具有较好的个人识别能力和非父排除率,在法医学及人类学方面具有应用价值。
[Abstract]:Objective to investigate the distribution of DYS719 and DYS439 alleles in two Y-STR loci in 120 male unrelated individuals in Shanxi Han nationality, and to provide basic data for population genetics, forensic personal identification and paternity testing. The feasibility of these two Y chromosome loci in forensic medicine was discussed. Methods (1) sampling: 120 unrelated individuals of Shanxi Han nationality were randomly selected to investigate the allelic frequency distribution of DYS719 and DYS439 loci, and the heart, liver, spleen, lung, kidney and muscle of the same healthy male cadaver. The blood samples of 20 women were collected for male specificity test. Genomic DNAs were extracted by phenol-chloroform organic solvent method. Two Y-STR loci DYS719 and DYS439were selected from GDB, and the suitable conditions were explored for PCR amplification. Agarose electrophoresis was used to detect 8% non-denatured polyacrylamide gel electrophoresis and silver nitrate staining banding. (3) sequencing and naming: all alleles were sequenced to construct allelic genotyping standard. (4) data processing: allele frequencies of loci were calculated directly. Results the core sequence of DYS719 locus was aat, the number of repeats was 11-15. Five alleles (1112 alleles) were observed in 120 male individuals of Shanxi Han nationality. The gene frequencies were 0.0833 (0.1333), 0.21677 (0.2167) and 0.1500 (0.73 22), respectively. The individual recognition rate (DP) and non-paternal exclusion rate (PE) were both observed. The repeat sequence of 0.7322 DYS439 locus was found in 120 cases of Shanxi Han nationality male population, and 4 alleles (10 alleles) were observed. The gene frequencies were 0.1250, 0.3833, 0.3250 and 0.1667, respectively. The gene diversity was 0.70400.The individual recognition rate (DP) and non-paternal exclusion rate (PE) were 0.7040.20 female DNA products were not found. The results showed that the specificity of the two loci was better. No variation was found in 15 pairs of paternal DYS719 and DYS439 loci. The DNA of heart, liver, spleen, lung, kidney, muscle and skin tissues of the same male cadaver were detected as the same allele, indicating that the two Y-STR loci have good individual identity. Conclusion both DYS719 and DYS439 loci have high genetic polymorphisms, and have good personal recognition ability and non-paternal exclusion rate, which are valuable in forensic medicine and anthropology.
【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
本文编号：2177857
[Abstract]:Objective to investigate the distribution of DYS719 and DYS439 alleles in two Y-STR loci in 120 male unrelated individuals in Shanxi Han nationality, and to provide basic data for population genetics, forensic personal identification and paternity testing. The feasibility of these two Y chromosome loci in forensic medicine was discussed. Methods (1) sampling: 120 unrelated individuals of Shanxi Han nationality were randomly selected to investigate the allelic frequency distribution of DYS719 and DYS439 loci, and the heart, liver, spleen, lung, kidney and muscle of the same healthy male cadaver. The blood samples of 20 women were collected for male specificity test. Genomic DNAs were extracted by phenol-chloroform organic solvent method. Two Y-STR loci DYS719 and DYS439were selected from GDB, and the suitable conditions were explored for PCR amplification. Agarose electrophoresis was used to detect 8% non-denatured polyacrylamide gel electrophoresis and silver nitrate staining banding. (3) sequencing and naming: all alleles were sequenced to construct allelic genotyping standard. (4) data processing: allele frequencies of loci were calculated directly. Results the core sequence of DYS719 locus was aat, the number of repeats was 11-15. Five alleles (1112 alleles) were observed in 120 male individuals of Shanxi Han nationality. The gene frequencies were 0.0833 (0.1333), 0.21677 (0.2167) and 0.1500 (0.73 22), respectively. The individual recognition rate (DP) and non-paternal exclusion rate (PE) were both observed. The repeat sequence of 0.7322 DYS439 locus was found in 120 cases of Shanxi Han nationality male population, and 4 alleles (10 alleles) were observed. The gene frequencies were 0.1250, 0.3833, 0.3250 and 0.1667, respectively. The gene diversity was 0.70400.The individual recognition rate (DP) and non-paternal exclusion rate (PE) were 0.7040.20 female DNA products were not found. The results showed that the specificity of the two loci was better. No variation was found in 15 pairs of paternal DYS719 and DYS439 loci. The DNA of heart, liver, spleen, lung, kidney, muscle and skin tissues of the same male cadaver were detected as the same allele, indicating that the two Y-STR loci have good individual identity. Conclusion both DYS719 and DYS439 loci have high genetic polymorphisms, and have good personal recognition ability and non-paternal exclusion rate, which are valuable in forensic medicine and anthropology.
【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
【引证文献】
相关硕士学位论文 前1条
1 段洪瑞;Y染色体6个STR基因座在中国朝鲜族男性和汉族男性人群中遗传多态性[D];延边大学;2012年
，本文编号：2177857
本文链接：https://www.wllwen.com/falvlunwen/fanzuizhian/2177857.html
