内蒙古鄂温克族群体X染色体九个短串联重复序列位点的遗传多态性及法医学应用价值评估

目的研究内蒙古鄂温克族人群X染色体上9个短串联重复序列(short tandem repeat,STR)位点(DXS6789、DXS101、DXS8378、DXS7132、DXS7133、DXS7423、DXS6804、DXS6799、HPRTB)的多态性分布及法医学应用价值。方法采取内蒙古鄂温克民族群体的99名健康无关个体静脉血,提取DNA,经PCR扩增,变性聚丙烯酰胺凝胶电泳,银染进行等位基因分型;SPSS13.0软件计算各位点基因型频率和等位基因频率,并检验其分布差异有无统计学意义;Genepop软件进行Hardy-Weinberg平衡检验;Fstat软件计算基因多态性、固定指数并检验固定指数偏离平衡值的程度;Powerstat软件计算各种法医学应用指标。结果获得内蒙古鄂温克族人群X染色体上9个STR位点等位基因频率分布的数据;9个X-STR位点中DXS6789、HPRTB位点的多态性和分化程度较低;DXS7132位点在不同民族中基因分布差异无统计学意义。结论9个X染色体STR位点中,DXS101、DXS8378、DXS7132、DXS7133、DXS7423、DXS6804、DXS6799等7个位点有较高的遗传多态性和个体识别率,在个体识别和女孩的亲权鉴定中有应用价值,对疾病相关研究有实际意义。DXS7132位点在不同民族中分布差异无统计学意义,在用X染色体STR位点标记判别鄂温克族与其他民族的差异时应该剔除。

Genetic polymorphisms of 9 X-chromosome short tandem repeat loci in a Inner Mongolia Ewenki population and their forensic evaluation

Objective To investigate the alleles and genotypes frequency of 9 short tandem repeat(STR) loci on the X chromosome(DXS6789,DXS101,DXS8378,DXS7132,DXS7133,DXS7423,DXS6804,DXS6799,HPRTB) of Ewenki individuals living in Inner Mongolia Autonomous Region of China.Methods The 9 X-chromosomal STR loci were analyzed with polymerase chain reation(PCR),followed by polyacylamide gel electrophoresis and silver staining.Software SPSS13.0,Genepop,Fstat and Powerstats were used to evaluate their polymorphism diversity and potential forensic application.Results Allele frequencies and genotype frequencies of 99 unrelated Ewenki individuals were obtained.Among the 9 loci,DXS6789,HPRTB showed less polymorphism and diversity in the population.The diversity of DXS7132 has no statistical difference between Ewenki population and other 4 Asian populations.Conclusion Except DXS6789,HPRTB,the other 7 X-chromosomal STR loci are appropriate for individual identification,paternity test involving a female child,and studies on related disease.DXS7132 should be excluded when being used to distinguish diversity difference among populations.