中文摘要：

目的观察河南汉族人群20个常用短串联重复序列（short tandemrepeat，STR）基因座的遗传多态性及等位基因的突变现象及特点。方法采用PowerPlex^TM 21扩增体系对2604例（868个标准三联体家系）河南汉族人群血液样本进行扩增，并进行毛细管电泳检测与分型，统计20个常用STR基因座的频率数据及多态性参数，观察该20个STR基因座的突变情况。结果共观察到323个等位基因，等位基因频率范围为0．0003～O．5144；在20个STR基因座中，共观察到47个突变事件，其中父源突变36个，母源突变5个，未知来源6个。D3S1358、TH01及TPOX未观察到突变情况，余17个STR基因座的突变率介于0～3．46×10^-3，总的突变率为1．35×10^-3。结论20个STR基因座在河南汉族人群中显示了其高度的多态性，对于法医学实践及遗传学研究等具有重要意义。目前尚无关于河南汉族人群该20个位点的突变数据报道，本文的报道对于评判亲子鉴定结果非常必要。

英文摘要：

Objective To study the genetic polymorphisms and mutations of 20 frequently used autosomal mierosatellites among ethnic Hans from Henan. Methods Peripheral blood samples of 2604 individuals were collected. DNA was amplified and genotyped using a PowerPlexTM 21 system. The frequencies, forensic parameters and mutation rates of the 20 short tandem repeat （STR） loci were analyzed. Results A total of 323 alleles were found in this population and the allelic frequencies have ranged from 0. 0003 to 0. 5144. Except for D3S1358, TH01 and TPOX, mutations have been found in all of the remaining 17 STR loci, which totaled 47, with mutation rates ranging from 0 to 3.46 × 10^-3. Conclusion The 20 STR loci selected by the PowerPlexTM 21 system are highly polymorphic among ethnic Hans from Henan, and may be of great value in forensic and human population studies. As no similar study has been carried out previously, above results may be of great value for individual discrimination and paternal testing.