西藏那曲地区藏族人群15个短串联重复序列位点多态性的研究

Genetic Polymorphisms of 15 STR Loci in Naqu Tibetan Population

利用基因扫描技术调查西藏自治区那曲地区藏族人群D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、VWA、TPOX、D18S51、D5S818及FGA共15个短串联重复序列(STR)基因座多态性分布,获得15个基因座的群体遗传学数据。结果显示:15个STR位点在那曲地区藏族人群中具有遗传多态性,基因型分布符合Hardy-Weinberg平衡,DP在0.758 8—0.960 4之间,H在0.476 2—0.862 0之间,PIC在0.446 4—0.861 5之间,EPP在0.385 0—0.856 0之间,累积个体鉴别力为0.999 999 999,累积非父排除率为0.999 999 998。15个STR位点适合作为那曲地区藏族人群的遗传标记用于人类学、疾病连锁分析、法医学亲子鉴定和个体识别等领域的研究。

Using multiplex amplification and five fluorescent techniques （6FAM, VIC, NED, PET and LIZ）, polymorphism distributions of 15 STR loci （D8Sl179, D21Sll, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818 and FGA） were investigated in the Naqu Tibetan population. Gene frequency, power of discrimination （DP）, heterozygosity （H）, polymorphism information content （PIC） and probability of paternity exclusion （EPP） were determined. In addition, Hardy-Weinberg equilibrium of the frequencies were also tested for all loci. Our results indicate the following： 1） Allele frequencies in the 15 STR loci meet the Hardy-Weinberg equilibrium. 2） The power of discrimination of the 15 STR loci is 0.758 8-0.9604, heterozygosity of the 15 STR loci is 0.4762-0.8620, the polymorphism information content of the 15 STR loci is 0.4464- 0. 861 5, and the probability of paternity exclusion of the 15 STR loci is 0. 385 0-0. 856 0. 3） The cumulative power of discrimination of the 15 STR is 0.999999999 and the cumulative probability of paternity exclusion is 0. 999 999 998. On the basis of these results, the 15 STR loci could be used as the genetic markers for the Naqu Tibetan population in studies of anthropology, linkage analysis of genetic disease, individual identification and paternity test in forensic medicine.