甘肃省汉族人群18个STR位点的遗传多态性

目的 调查18个短串联重复序列（Short Tandem Repeat,STR）位点在甘肃省汉族人群中的基因频率分布.方法 采用PCR扩增及毛细管电泳技术对272名个体的18个STR基因座进行分析.结果 共检出202种等位基因,基因频率分布在0.002～0.570之间.18个STR基因型分布均符合Hardy-Weinberg平衡（P＞0.05）,杂合度在0.599～0.893之间,个人识别能力在0.771～0.984,多态信息含量在0.534～0.910,非父排除概率在0.290～0.782.结论 本研究结果可为人类群体遗传学及法医学后续研究提供详实可靠的基础数据.

Genetic polymorphism of 18 short tandem repeat loci in the Hans of Gansu province

Objective To determine the frequencies and parameters of 18 short tandem repeat loci （D5S818, D21S11, D7S820, CSF1PO, D2S1338, D3S1358, vWA, D8S1179, D16S539, Penta E, TPOX, TH01, D19S433, D18S51, FGA, D6S1043, D13S317, D12S391） of Han population in Gansu province. Methods PCR amplification and capillary electrophoresis technologies were employed to determine the genotypes of 18 STR loci for 272 individuals. Results 202 alleles were recognized, with frequencies ranged from 0. 002 to 0. 570. No departures from Hardy-Weinberg expectations were detected for all 18 loci studied （P〉0. 05）. The statistical analysis of 18 STR loci showed the heterozygosity is higher than 0. 599, the discrimination power is higher than 0. 771, the polymorphic information content is higher than 0. 534, and the probability of paternity exclusion is higher than 0. 290. Conclusion This work not only studied the genetic polymorphism of 18 short tandem repeat loci in Gansu province, but also introduced the DNATyper^TM 19 kit into genetic polymorphism studies and reported relevant parameters of the DNATyper^TM 19 kit.