D1S549等6个短串重复序列基因座在河南汉族群体的遗传多态性

目的　探讨河南汉族群体的D1S5 49、D3S175 4、D2 2S683和CSF1PO、TPOX、TH0 1基因座遗传多态性分布。方法　ACD抗凝血样采自 2 19名无血缘关系汉族个体 ,酚 氯仿法提取DNA ,应用复合扩增技术对D1S5 49等 6个短串重复序列 (STR)基因座进行扩增 ,采用高分辨率的聚丙烯酰胺凝胶电泳分离、银染法显影技术。统计各基因频率、计算杂合度、多态信息含量、个人识别概率及亲权否定概率。结果　 6个STR基因座基因频率的分布均符合Hardy Weinberg平衡 ,各基因座的杂合度分别为 0 .7964、0 .72 3 1、0 .815 9、0 .75 81、0 .65 2 3、0 .6816;非父排除概率为 0 .62 46、0 .4914、0 .65 0 1、0 .5 2 3 6、0 .40 98、0 .42 87;个人识别机率为 0 .8996、0 .8781、0 .92 3 1、0 .8896、0 .8167、0 .83 92 ;多态信息含量为 0 .72 16、0 .6994、0 .742 1、0 .7169、0 .65 17、0 .710 6。结论　D1S5 49等 6个STR基因座是一组高度多态性的遗传标记系统 ,在人类遗传学及法医学研究中具有重要意义

Han population genetic polymorphism data of six short tandem repeat loca in Henan area

Objective To investigate the polymorphism distribution of D1S549, D3S1754, D22S683 and CSF1PO, TPOX, TH01 in Han population in Henan.Methods ACD blood specimens were collected from 219 healthy unrelated Han population individuals in Henan. The polyerase chain reaction (PCR) was used. Six short tandem repeat(STR) systems were amplified on DNA samples, which were extracted by Phenol Chloroform method. The PCR products were analyzed by PAG vertical electroporesis and silver staining method. After getting the allele frequencies, the heterozygosity(H), polymorphis information content(PIC), discrimination probability(DP) and exclusion power(PE) were calculated.Results All the six allele frequencies were obtained and the frequencies agreed with Hardy Weinberge quilibrium. The heterozygosites observed were 0.7964, 0.7231, 0.8159, 0.7581, 0.6523, 0.6816 for D1S549, D3S1754, D22S683, CSF1PO, TPOX and TH01 respectively. The PE were 0.6246, 0.4914, 0.6501, 0.5236, 0.4098, 0.4287. The discrimination proabitity were 0.8996, 0.8781, 0.9231, 0.8896, 0.8167, 0.8392 . And the PIC were 0.7216, 0.6994, 0.7421, 0.7169, 0.6517, 0.7106 .Conclusion The six STR loca are useful markers in the genetic study and the forensic science practice.