中国辽宁汉族DYS390、DYS389Ⅰ/Ⅱ基因座及单倍型研究

Polymorphic Analysis of DYS390 and DYS389Ⅰ/Ⅱ in Han Nationality in Liaoning Province in China

目的 :研究中国辽宁汉族群体 Y染色体特异基因座 DYS390、DYS389 / 的遗传多态性及其法医实践中的应用价值。方法 :应用聚合酶链反应 (PCR)后变性聚丙烯酰胺凝胶电泳分离扩增产物结合银染显带的方法 ,对 DYS390、DYS389 / 基因座在 98例辽宁汉族无关男性个体的等位基因分布进行调查。结果 :DYS390基因座共检出 5种等位基因 ,频率分布在 0 .0 10～ 0 .480之间 ,个人识别机率为 0 .6 37;DYS389 基因座共检出 3种等位基因 ,频率分布在 0 .2 2 4～ 0 .439之间 ,个人识别机率为 0 .6 44 ;DYS389 基因座共检出 5种等位基因 ,频率分布在0 .0 2 0～ 0 .36 7之间 ,个人识别机率为 0 .72 3。上述基因座组成的单倍型在 98名无关男性中共观察到 31种 ,单倍型的个人识别机率达到 0 .948,家系调查符合单体父系遗传方式。结论 :DYS390、DYS389 / 基因座个人识别机率高 。

Objective: Our aim was to investigate the polymorphism and forensic meaning of the Y chromosomal loci DYS390 and DYS389Ⅰ/Ⅱ in Han nationality in Liaoning Province. Methods: By amplifying these loci with polymorase chain reaction (PCR) followed by polyacrylamide gel electrophoresis and silver staining, the allele frequencies of these loci among 98 unrelated men of Han nationality were investigated. Results: Five alleles with different frequencies from 0.010 to 0.480 were detected of DYS390, and three alleles with different frequencies from 0.224 to 0.439 were detected of DYS 389Ⅰ. Locus DYS 389Ⅱ was detected in five alleles and the frequencies ranged from 0.020 to 0.367. The probability discrimination of these loci were 0.637, 0.644 and 0.723. These loci were found to generate at least 31 different haplotypes and the power of discrimination was 0.948. Conclusion: The loci DYS390 and DYS389Ⅰ/Ⅱ are very important when detect mixed samples, especially in deficiency cases of paternity test.