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目的研究18个短串联重复序列(Short Tandem Repeat,STR)位点(D5S818、D21S11、D7S820、CSF1PO、D2S1338、D3S1358、vWA、D8S1179、D16S539、Penta E、TPOX、TH01、D19S433、D18S51、FGA、D6S1043、D13S317、D12S391)在新疆巴音郭楞蒙古自治州(以下简称:新疆巴州)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269名个体的18个STR基因座进行分析。结果共检出207种等位基因,基因频率分布在0.002~0.457之间。18个STR基因型分布均符合Hardy-Weinberg平衡(P>0.05),杂合度均≥0.688,个人识别能力均≥0.821,多态信息含量均≥0.61,非父排除概率均≥0.410。结论本文首次报道了新疆巴州地区汉族人群18个STR位点的遗传多态性,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。
Objective To investigate the effect of 18 short Tandem Repeat (STR) sites (D5S818, D21S11, D7S820, CSF1PO, D2S1338, D3S1358, vWA, D8S1179, D16S539, PentaE, TPOX, TH01, D19S433, D18S51, FGA, D6S1043 , D13S317, D12S391) in Han nationality in Xinjiang Bayinguoleng Mongolia Autonomous Prefecture (Bazhou, Xinjiang). Methods 18 STR loci of 269 individuals were analyzed by PCR amplification and capillary electrophoresis. Results A total of 207 alleles were detected. The frequency of the genes was between 0.002 and 0.457. The distribution of 18 STR genotypes was in accordance with Hardy-Weinberg equilibrium (P> 0.05), heterozygosity≥0.688, individual recognition ability≥0.821, polymorphism information≥0.61, and non-parent exclusionary probability≥0.410. Conclusions This study reports for the first time the genetic polymorphisms of 18 STR loci in the Han population in Bazhou, Xinjiang, and provides detailed and reliable basic data for the follow-up study of human population genetics and forensic science.