潮汕地区汉族人群9个新Y-STR基因座多态性研究

目的 分析9个新Y染色体短串联重复序列(Y short tandem repeats,Y-STR)基因座的序列结构,及其在潮汕地区汉族人群中的遗传多态性分布,评价其法医学应用价值.方法 应用PCR反应,对潮汕地区汉族159名无关男性个体的血样进行基因分型,采用直接计数法计算9个Y-STR基因座的等位基因频率和单体型频率.结果 9个Y-STR基因座(DYS522、DYS549、DYS556、DYS565、DYS568、DYS570、DYS594、DYS593、DYS588)均为单拷贝,并分别检测出7、5、5、4、6、9、4、4、8个等位基因,基因多样性(gene diversity,GD)在0.1434～0.7994间;共检出136种单体型;累计单体型GD值为0.997.另对30个2代父子家系调查显示:同一家系成员9个Y-STR基因座单体型一致,未观察到基因突变.结论 9个Y-STR基因座具有较高的鉴别效能,适合作为法医学应用的遗传标记.

The Genetic Polymorphisms of Nine New Y-STR Loci in Chaoshan Han Population

Objective To analyze sequence characteristics and genetic polymorphisms of nine new Y-chromosomal short tandem repeats (Y-STR) in Chaoshan Han population,and to evaluate their applications of forensic science. Methods Blood samples of 159 unrelated male individuals from Chaoshan Han population were genotyped by PCR. The allele and haplotype frequencies of nine Y-STR loci were calculated by the count ing method. Results Nine Y-STR loci (DYS522, DYS549, DYS556, DYS565, DYS568, DYS570, DYS594, DYS593, DYS588) were single copy, and 7, 5, 5, 4, 6, 9, 4, 4, 8 alleles were detected respectively. The gene diversity (GD) value ranged from 0.1434 to 0.7994. A total of 136 haplotypes were found, and the haplotype diversity was 0.997. None of Y-STR allele mutation was observed in the 30 father/son pairs with demonstrated paternity. Conclusion The identifying power of 9 Y-STR loci are higher. Nine Y-STR loci developed by us are suitable genetic markers for forensic applications.