成都汉族群体七个短串联重复序列基因座的遗传多态性和法医学应用研究

Polymorphisms of seven short tandem repeat loci: D1S2142,D1S3733,D2S1774,D3S2459,D21S1409,D21S1437 and D21S2055 of Chinese Han population in Chengdu

目的获得中国成都地区汉族群体D1S2142、D1S3733、D2S1774、D3S2459、D21S1409、D21S1437和D21S2055七个短串联重复序列(shorttandemrepeats,STR)基因座的群体遗传学资料,评价它们在法医鉴定的应用价值。方法用PCR、聚丙烯酰胺凝胶电泳、银染技术,对283名成都汉族无血缘关系的个体及50个家庭样品进行检测。结果D1S2142检出11个等位基因,23种基因型;D1S3733检出8个等位基因,19种基因型;D2S1774检出8个等位基因,15种基因型;D3S2459检出7个等位基因,19种基因型;D21S1409检出6个等位基因,12种基因型;D21S1437检出9个等位基因,26种基因型;D21S2055检出20个等位基因,77种基因型;基因型分布符合Hardy-Weinberg平衡定律;50个家庭样品调查证实上述基因座均符合孟德尔常染色体共显性遗传,未发现突变。结论D1S2142、D1S3733、D2S1774、D3S2459、D21S1409、D21S1437和21S2055基因座具有较好的多态性。基因座间独立性分析,证实上述7个基因座之间不存在连锁关系,可作为法医学亲子鉴定和个人识别的遗传标记。

Objective To obtain the data in polymorphism distribution of the seven short tandem repeat （STR） loci： DIS2142, DIS3733, D2S1774, D3S2459, D21S1409, D21S1437 and D21S2055 of Chinese Han population in Chengdu, and evaluate the polymorphism data usefulness to the forensic science. Methods PCR, polyacrylamide gel electrophoresis （PAGE） and silver staining techniques were used to analyze the DNA samples from unrelated individuals of Chinese Han ethnic group in Chengdu. Results Eleven alleles and twenty-three genotypes were observed in DIS2142. Eight alleles and ninteen genotypes were observed in DIS3733. Eight alleles and fifteen genotypes were observed in D2S1774. Seven alleles and nineteen genotypes were observed in D3S2459. Six alleles and twelve genotypes were observed in D21S1409. Nine alleles and twenty-six genotypes were observed in D21S1437. Twenty alleles and seventy-seven genotypes were observed in D21S2055. The genotype distributions of the seven StIR loci showed no deviation from the Hardy-Weinberg equilibrium. The parentage testing of 50 cases revealed an autosomal codominant inheritances and no mutations happened to seven STR loci. Conclusion These data indicate that DIS2142, DIS3733, D2S1774, D3S2459, D21S1409, D21S1437 and D21S2055 have good polymorphism, with high probability of exclusion and probability of discrimination power as well as being loci available as the candidate genetic markers to forensic parentage testing and personal identification.