17个Y-STR基因座在广东汉族人群中的单倍型频率及突变率  

Haplotype frequency and mutation of 17 Y-STR loci in Han population in Guangdong Province

作　　者：翁玮霞[1] 刘宏[2] 刘超[2] 李双琳[2] 刘长晖[2] 王慧君[1] 

机构地区：[1]南方医科大学法医系,广东广州510515 [2]广州市刑事科学技术研究所,广东广州510030

出　　处：《南方医科大学学报》2013年第3期412-415,共4页Journal of Southern Medical University

基　　金：广东省重点科技项目(2010A060801000);公安部应用创新计划项目(2011YYCXGDST076)

摘　　要：目的调查Y-filer检测系统中17个Y-STR基因座在广东汉族中的多态性及遗传稳定性,研究其法医学应用效能。方法应用Y-filer检验体系对广东汉族1000个男性无关个体及1000对确定亲子关系的父子进行Y-STR分型,计算17个Y-STR基因座的的单倍型频率,对发生突变的基因座进行单基因座扩增和测序验证后计算突变率。结果 1000个广东男性无关个体中没有发现相同的单倍型,单倍型多样性达到1.0000,17个Y-STR基因座的基因多样性值在0.4285（DYS391）~0.9654（DYS385a/b）之间。1000对父子17个基因座共观察17 000次减数分裂,共发现46次突变,平均突变率为0.0027（95%CI,0.0020~0.0036）。结论 Y-filer检测系统在广东汉族人群中具有高度多态性,在父权鉴定、个体识别等法医学应用中具有重要价值。Objective To investigate the polymorphisms of 17 Y-STR loci in Han population in Guangdong Province and explore its application in forensic medicine. Method Seventeen Y-STR loci （DYS19, DYS385a/b, DYS635, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, Y-GATA-H4） were analyzed using Y filerTM kit in 1000 unrelated individuals and 1000 DNA-confirmed father-son pairs. All mutations were confirmed by DNA sequence analysis. Results No shared haplotypes were observed among the 1000 unrelated male individuals, and the gene diversity of 17 Y-STR loci ranged from 0.4285 （DYS391） to 0.9654 （DYS385a/b）. The samples yielded an overall haplotype diversity of 1.000. A total of 17000 meiotic events were investigated in 1000 father-son pairs with DNA-confirmed biological paternity and 46 differences were observed between the fathers and sons. The average mutation rate was 0.0027 （95% CI, 0.0020-0.0036） per locus. Conclusion The 17 Y-STR loci included in Y-filer have high genetic polymorphisms in South China Han population and have good prospect for application in forensic medicine.

关 键 词：Y-STR 遗传多态性 突变率 父权鉴定 个体识别 

分 类 号：D919.1[医药卫生—法医学]