东方地区黎族人群18个STR基因座的遗传多态性

Genetic Polymorphism of 18 Short Tandem Repeat Loci of Ethnic Li Population from Dongfang Region

研究了D5S818、D8S1179、D7S820、CSF1PO、D2S1338、D3S1358、vWA、D21S11、D16S539、PentaE、TPOX、TH01、D19S433、D18S51、FGA、D6S1043、D13S317、D12S391等18个短串联重复序列(short tandem repeats,STR)基因座在东方地区黎族人群的遗传多态性。采用荧光标记复合扩增及毛细管电泳技术对2939名东方地区黎族无关个体18个STR基因座进行分析。研究结果显示,2939名东方地区黎族个体在18个STR基因座上,共检出214种等位基因,1105种基因型,其分布均符合Hardy-Weinberg平衡(P>0.05),18个基因座的杂合度(H)介于0.5835~0.8751之间,匹配概率(Pm)介于0.0223~0.2415之间,个体识别概率(DP)介于0.7585~0.9777之间,多态信息含量(PIC)介于0.5146~0.8754之间,累积个体识别率(TDP)大于0.999 999 999 999 999 999 999 81,累积三联体非父排除概率(CPEtri)为0.99999999,累积二联体非父排除率(CPEduo)为0.99998508。本文研究结果对东方地区黎族人群群体遗传学及法医学后续研究应用具有参考价值。

To investigate the genetic polymorphism of 18 short tandem repeat （STR） loci （D5S818, D8Sl179, D7S820, CSF1PO, D2S1338, D3S1358, vWA, D21Sll, D16S539, PentaE, TPOX, TH01, D19S433, D18S51, FGA, D6S1043, D13S317, D12S391） among the ethnic Li population in Dongfang region of Hainan province. Fluorescence-labelling multiplex PCR amplification and capillary electrophoresis technologies were useed to determine the genetype of 18 STR loci for 2939 unrelated Li individuals. Results show that 214 alleles and 1105 genotypes are recognized in Li population from Dongfang region. The results demonstrated that all loci are found to be no deviation from Hardy-Weinberg equilibrium（P 〉 0.05）. Heterozygosity（H） ranged from 0.5835 to 0.8751, matching probability（Pm） ranged from 0.0223 to 0.2415, power of discrimination（DP） ranged from 0.7585 to 0.9777, polymorphism information content（PIC） ranged from 0.5146 to 0.8754. Total discrimination power （TDP） of the 18 STR loci is greater than 0.999 999 999 999 999 999 999 81, Cumulative probability of exclusion presents 0.99999999 in triplet setting （CPEtrl） and 0.99998508 in duo situationgs （CPEduo）.The research results of this work have reference value for the research and application of the population genetics and forensic DNA of Li population from Dongfang region.