青海蒙族群体8个STR位点遗传多态性研究

Genetic PolymorpHism of Eight Short Tandem Repeat in Qinghai Mongolia Population

目的：研究青海蒙族人群第21号染色体D21S1432、D21S1435、D21S1270、D21S1440、D21S1446、GATA24H09、ATA42C09、GATA129D11等8个STR位点的遗传多态性。方法：运用PCR扩增、6%变性聚丙烯酰胺凝胶电泳结合银染技术对30位无关个体蒙族人群进行多态性研究。结果：8个位点分别检测出6、5、7、5、6、5、5、5个等位基因片段,共140个基因型,频率分布在0.025 09~0.046 43之间,多态性分布符合Hardy-weinberg平衡定律。8个STR位点多态信息量（PolymorpHism information content,PIC）分别为0.699 4、0.703 9、0.759 2、0.638 0、0.672 0、0.685 0、0.674 0、0.691 9,累积多态信息量为0.688 9。期望杂合度（heterozygosity,HET）分别为0.740 2、0.748 3、0.790 4、0.682 2、0.741 5、0.7271、0.742 5、0.725 5,累积杂合度为0.758 9。累积个体识别率（discrimination power,DP）为0.989 6,累积排除率（probabilities of paternity exclusion,PE）为0.999 6。结论：青海蒙族8个位点STR基因座的多态性数据显示其基因分布特征具有特异性。

Objective：To analyze genetic polymorpHism of STR（D21S1432,D21S1435,D21S1270,D21S1440,D21S1446,GATA24H09,ATA42C09,GATA129D1）located in number 21 chromosome from Mongolia population in Qinghai.Methods：The genetic polymorpHism of thirty samples from unrelated Mongolia individual was researched using PCR and 6% denaturing PAGE and silver staining technique.Results：The study detected out 6、5、7、5、6、5、5、5 alleles at STR loci and 140genotypes.The genotype distribution were in accordance with Hardy-Weinberg equilibrium and its frequencies ranging from 0.025 09 to 0.046 43.The HET in D21S1432,D21S1435,D21S1270,D21S1440,D21S1446,GATA24H09,ATA42C09 and GATA129D11 were 0.740 2、0.748 3、0.790 4、0.682 2、0.741 5、0.727 1、0.742 5、0.725 5 respectively,PIC were 0.699 4、0.703 9、0.759 2、0.638 0、0.672 0、0.685 0、0.674 0、0.691 9 respectively.The combined PIC,HET,DP and PE were 0.688 9、0.758 9、0.989 6、0.999 6respectively.Conclusions：The eight STR loci distribution in Qinghai Mongolia population have its own characteristics.This Study provides genetic data for the gene pool of Chinese groups and is useful for anthropology and population genetics research.