遗传 ›› 2004, Vol. 26 ›› Issue (4): 446-450.

• 论文 • 上一篇    下一篇

中国南方汉族人群6个Y-STR基因座 遗传多态性及法医学应用

邓志辉;吴国光;张 旋DENG Zhi-Hui;;WU Guo-Guang ; ZHANG Xuan   

  1. 深圳市输血医学研究所,深圳518035Shenzhen Institute of Transfusion Medicine, Shenzhen 518035 , China
  • 收稿日期:1900-01-01 出版日期:2004-08-10 发布日期:2004-08-10

Genetic Polymorphisms of 6 Y-Chromosome Specific STR Loci in the southern Chinese Han Population and Its Application in Forensic Science

  • Received:1900-01-01 Online:2004-08-10 Published:2004-08-10

摘要:

为研究中国南方汉族人群DYS393等6个Y-STR基因座的遗传多态性并用于法医学鉴定,通过采用PCR复合扩增和基因测序仪荧光检测方法,检查204个无关男性个体,调查南方汉族的6个Y-STR基因座的单倍型频率,并对93对真父子和38对非父子的亲子鉴定样本进行检测。结果DYS393基因座检出5个等位基因,DYS19基因座检出6个等位基因,DYS389Ⅱ基因座检出8个等位基因,DYS390基因座检出6个等位基因,DYS391基因座检出4个等位基因,DYS385 基因座检出44个等位基因,共检出176种单倍型。93对真父子中,观察到2例分别有1个基因座突变。检测38对非父子,有1个或2个Y-STR基因座排除的案例各有1例(2.6%);有3
个和3个以上的Y-STR基因座可以排除父子关系的案例为35例(92.1%);6个Y-STR基因座不能排除父子关系的为1例。结果表明6个Y-STR基因座具有丰富的遗传多态性,可用于法医学个体识别和亲子鉴定。Abstract: To study the genetic polymorphisms of six Y-chromosome specific STR loci in the southern Chinese Han population and apply it in forensic science, six Y-STR loci were amplified by multiple PCR and the PCR products were detected by using ABI PrismTM 377 Sequencer. The haplotype frequencies at 6 Y-STR loci were determined in a total of 204 unrelated males from southern Han population of China. Ninety-three father/son pairs with demonstrated paternity and thirty-eight non-paternity father/son pairs were detected by using our Y-STR system. As a result, the number of alleles for DYS393、DYS19、DYS389Ⅱ、DYS390、DYS391and DYS385 were 5, 6, 8, 6, 4 and 44 , respectively. A total of 176 haplotypes at 6 Y-STR loci were found. Two father/son pairs with single Y-STR mutation were observed in the 93 father/son pairs with demonstrated paternity. Among the 38 non-paternity father/son pairs, one case with one Y-STR exclusion of paternity, one case with two Y-STR exclusions and 35 cases with 3 or more Y-STR exclusions were observed. Non-exclusion of paternity at 6 Y-STR loci was found only in one case. This result indicated that the six Y-STR loci were highly polymorphic and are suitable for personal identification and paternity testing.

关键词: 单倍型, Y-chromosome, 遗传多态性
Key words,
短串联重复序列(STR), Y染色体