目的研究中国云南彝族人群的群体遗传结构。方法选择9个短串联重复序列(short tandem repeats,STR)位点(D3S1358、vWA、FGA、TH01、TPOX、CSFlPO、D5S818、D13S317、D7S820),采用STR复合扩增及荧光标记STR基因扫描技术,检测84名彝族无关个体血液样本。结果9个STR位点在84名云南彝族共检出69种等位片段,频率分布在0.0060-0.5060之间;检出164种基因型,频率分布在0.0119-0.4167之间。9个STR位点的基因型分布符合Hardy.Weinberg平衡定律(P〉0.05)。9个位点多态信息量分布在0.5804-0.8777之间,杂合度分布在0.6507~0.8002之间,个体识别力分布在0.7976-0.9558之间,除TPOX,TH01两个位点低于0.5外,其余7个位点的非父排除率分布在0.5207~0.8386之间。Neighbor joining(NJ)法构建彝族与云南地区其他11个少数民族的系统进化树显示:彝族首先与白族、普米族、德昂族、阿昌族、独龙族、怒族聚在一起,然后与傈僳族、傣族相聚,最后与景颇族、苗族、纳西族相聚。绪论获得了云南彝族9个STR位点的遗传多态数据,在人类群体遗传数据库建设、法医学亲权鉴定和个体识别研究及应用领域有重要价值。
Nine short tandem repeat (STR) markers on the X chromosome (DXS101, DXS6789, DXS6799, DXS6804, DXST132, DXST133, DXS7423, DXS8378, and HPRTB) were analyzed in four population groups (Mongol, Ewenki, Oroqen, and Daur) from Inner Mongolia, China, in order to learn about the genetic diversity, forensic suitability, and possible genetic affinities of the populations. Frequency estimates, Hardy-Weinberg equilibrium, and other parameters of forensic interest were computed. The results revealed that the nine markers have a moderate degree of variability in the population groups. Most heterozygosity values for the nine loci range from 0.480 to 0.891, and there are evident differences of genetic variability among the populations. A UPGMA tree constructed on the basis of the generated data shows very low genetic distance betweent Mongol and Han (Xi'an) populations. Our results based on genetic distance analysis are consistent with the results of earlier studies based on linguistics and the immigration history and origin of these populations. The minisatellite loci on the X chromosome studied here are not only useful in showing significant genetic variation between the populations, but also are suitable for human identity testing among Inner Mongolian populations.