辽宁锡伯族人群15个STR基因座的遗传多态性及与其他民族之间关系的研究

Genetic Polymorphism of Fifteen STR Loci of Xibe People in Liaoning

目的探索辽宁锡伯族15个常染色体基因座(D3S1358,TH01,D21S11,D18S51,D5S818,D13S317,D7S820,D16S539,CSF1PO,vWA,D8S1179,TPOX,D2S1338,D19S433,FGA)的遗传多态性,分析14个群体间的遗传关系,建立辽宁锡伯族群体的遗传学基础数据,为群体遗传学和法医学应用提供依据。方法采集辽宁锡伯族150名无关个体口腔黏膜细胞,Chelex 100法提取DNA,应用荧光标记法进行PCR扩增,扩增产物在Li-COR 4300基因分析仪上电泳,E-seq分析软件进行基因型分型,应用PowerStats V1.2软件计算各基因座的相关群体遗传学参数,计算14个群体间的遗传距离,用Neighbor-Joining法构建系统发生树。结果 15个STR基因座在辽宁锡伯族群体中具有遗传多态性,基因型分布符合Hardy-Weinberg平衡定律(P>0.05)。累积非父排除率(CPE)为0.999 991 636 8,累积个人识别能力(TDP)为0.999 999 999 999 999 146 51。辽宁锡伯族与国内及来自亚洲群体的亲缘关系较近,而与来自大洋洲的澳大利亚群体亲缘关系较远。结论辽宁锡伯族群体15个常染色体STR基因座有较高的非父排除率和个体识别能力,可为法医学亲子鉴定、个体识别及群体遗传学研究提供依据。

Objective To investigate the genetic polymorphism of short tandem repeat （STR） in Liaoning Xibe population. Methods Fifteen loci- D3S1358, THO1, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, CSF1PO, vWA, D8S1179, TPOX, D2S1338, D19S433, and FGA were analyzed in this study. Buccal samples were collected from 150 unrelated individuals of Xibe population living in Liaoning province, China. PCR amplification reactions of STR loci were performed using a 2720 Thermal cycler （ABI） in fluorescence-based reaction. The amplified products were detected in a Li-COR 4300 DNA Analyzer. Allele calling was performed using E-seq Analysis software. Results All the 15 loci met Hardy- Weinberg equilibrium. Cumulative non-parental eliminate rate （CPE） is 0.999 991 636 8, and cumulative individual discriminative power （CDP） is 0.999 999 999 999 999 146 51. Conclusion The 15 STR loci are valuable genetic markers meeting the needs for the parentage testing and personal identification in forensic paternity testing, which also can be applied to the population genetics studies.