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| 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 | |
| 引用本文： | 翁玮霞,刘宏,刘超,李双琳,刘长晖,王慧君.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[J].南方医科大学学报,2013,33(3):412-415. |
| 作者姓名： | 翁玮霞 刘宏 刘超 李双琳 刘长晖 王慧君 |
| 作者单位： | 翁玮霞 (南方医科大学法医系,广东广州,510515)； 刘宏 (广州市刑事科学技术研究所,广东广州,510030)； 刘超 (广州市刑事科学技术研究所,广东广州,510030)；李双琳 (广州市刑事科学技术研究所,广东广州,510030)； 刘长晖 (广州市刑事科学技术研究所,广东广州,510030)； 王慧君 (南方医科大学法医系,广东广州,510515)； |
| 基金项目： | 广东省重点科技项目(项目编号：2010A060801000)公安部应用创新计划项目(项目编号：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。 |
| 关 键 词： | Y-STR 遗传多态性 突变率 父权鉴定 个体识别 |
Haplotype frequency and mutation of 17 Y-STR loci in Han population in Guangdong Province |
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| WENG Weixia,LIU Hong,LIU Chao,LI Shuanglin,LIU Changhui,WANG Huijun.Haplotype frequency and mutation of 17 Y-STR loci in Han population in Guangdong Province[J].Journal of Southern Medical University,2013,33(3):412-415. | |
| Authors: | WENG Weixia LIU Hong LIU Chao LI Shuanglin LIU Changhui WANG Huijun |
| Institution: | 1 Department of Forensic Medicine,Southern Medical University,Guangzhou 510515,China;2 Guangzhou Forensic Institute,Guangzhou 510030,China |
| Abstract: | 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. |
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