南方医科大学学报

南方医科大学学报 ›› 2013, Vol. 33 ›› Issue (03): 412-.

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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

翁玮霞，刘宏，刘超，李双琳，刘长晖，王慧君   

  • 出版日期:2013-03-20 发布日期:2013-03-20

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

  • Online:2013-03-20 Published:2013-03-20

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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。

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.