江西部分地区汉族人群六个短串联重复序列基因座的遗传多态性

目的 调查江西除赣州地区外其余地区汉族人群无关个体6个短串联重复序列(short tandem repeat,STR)基因座的遗传多态性,积累遗传学数据.方法 采集江西部分地区212名汉族无关个体EDTA抗凝全血,应用聚合酶链反应复合扩增与聚丙烯酰胺凝胶电泳检测技术检测D6S1043、D2S1772、D7S3048、D22-GATA198B05、D8S1132与D11S2368这6个STR基因座的等位基因.结果 在212名江西部分地区汉族人群中观察到D6S1043基因座位13种等位基因,52种基因型;D2S1772基因座13种等位基因,66种基因型;D7S3048基因座位12种等位基因,48种等位基因型;D22-GATA198B05基因座位11种等位基因,44种等位基因型;D8S1132基因座10种等位基因,38种等位基因型;D11S2368基因座位10种等位基因,41种等位基因型.D6S1043、D2S1772、D7S3048、D22-GATA198B05、D11S2368与D8S1132这6个基因座的观察杂合度在0.8019～0.8774之间;期望杂合度在0.8553～0.8896之间;个人识别力在0.9559～0.9735之间;非父排除率在0.7053～0.7751之间;多态信息含量在0.8452～0.8774之间.结论 本次调查6个STR位点在江西地区汉族人群的分布符合Hardy-Weinberg平衡,遗传多态性高.为丰富江西地区遗传资料库及法医学应用提供了基础数据和理论依据.

The genetic polymorphisms of 6 short tandem repeat loci in native Han population in Jiangxi province

Objective To investigate the genetic polymorphisms of 6 short tandem repeats (STR)loci, namely, D6S1043, D2S1772, D7S3048, D22-GATA198B05, D8Sl132 and D11S2368 in native Han population of Jiangxi province, China. Methods Two hundred and twelve blood samples of unrelated subjects of Han population in Jiangxi province were collected. Genotyping was performed by using multiplex polymerase chain reaction-polyacrylamide gel electrophoresis. Results Thirteen alleles and 52 genotypes in the D6S1043 locus, 13 alleles and 66 genotypes in D2S1772, 12 alleles and 48 genotypes in D7S3048, 11 alleles and 44 genotypes in D22-GATA198B05, 10 alleles and 38 genotypes in D8Sl132, 10 alleles and 41 genotypes in D11S2368 locus, were detected in the 212 subjects. The observed heterozygosity (h) in D6S1043, D2S1772, D7S3048, D22-GATA198B05, D8S1132 and D11S2368 loci ranged from 0.8019 to 0.8774. The expected heterozygosity (H) varied from 0. 8553 to 0.8896. The discriminating power (DP)ranged from 0.9559 to 0.9735. The probability of exclusion (PE) ranged from 0.7053 to 0.7751. The polymorphism information content (PIC) varied from 0.8452 to 0.8774. Conclusion All the 6 loci were of Hardy-Weinberg equilibrium. The genetic polymorphism of the 6 STR loci in Han population of Jiangxi province was high. The allelic distribution data at the 6 loci are valuable in population study, individual identification and paternity test for this population.