中文摘要：

目的研究广州地区汉族人群12个Y-STR基因座的等位基因频率分布、单倍型遗传多样性及其法医学应用价值。方法采用PowerPlexYSystem荧光标记复合扩增系统检测401例广州汉族无关个体的12个Y-STR基因座,并用3100遗传分析仪进行基因分型。结果获得了广州地区汉族无关男性个体的12个Y-STR基因座的频率分布资料,观察到398个单倍型,其基因多样性为0.99997;检测13种动物血样,在特异性区域均无扩增产物;55个父系样本,未观察到突变基因;同一男性个体的不同组织基因分型相同且女性DNA成分不影响Y-STR的扩增分型。结论该12个Y-STR基因座检测系统具有很高的识别能力,在群体遗传学研究及法医学混合检材的个人识别和父系亲缘关系鉴定中有重要应用价值。

英文摘要：

Objective To investigate the allele frequency distribution, gene diversity and haplotype diversity of 12 Y-specific short tandem repeats （STR） in Guangzhou Han population and evaluate their forensic application. Methods Twelve Y-STR loci in 401 unrelated male Han individuals in Guangzhou were amplified with PowerPlex~Y System, and the PCR products were detected with 3100 Genetic Analyzer. Results The data of allele distribution and gene diversity of the 12 Y-STR loci were obtained from these individuals. A total of 398 haplotypes were observed and the overall haplotype diversity for the 12 Y-STR loci was 0.99997. The DNA samples of 13 different species of animals were amplified and no specific products were observed. Different tissues from the same individual exhibited the same Y-STR haplotype. Conclusion The 12 Y-STR loci exhibit high genetic polymorphism and are of important value in understanding of the human origin, individual identification for mixed male/female DNA samples and paternity identification.