回族X染色体STR位点的遗传多态性研究

目的研究宁夏回族群体X染色体上的10个短串联重复序列(DXS101,DXS6789,DXS6799,DXS6804,DXS7130,DXS7132,DXS7133,DXS7423,HPRTB,DXS8378)的基因多态性。方法随机抽取100名宁夏回族无关个体(男性40名,女性58名)的静脉血,提取DNA,PCR扩增,变性聚丙烯酰胺凝胶电泳,银染检测结果。结果DXS101、DXS6789、DXS6799、DXS6804、DXS7130、DXS7132、DXS7133、DXS7423、HPRTB、DXS8378分别检出9、8、4、6、6、6、4、4、5和5十种等位基因,检出17、22、7、14、14、15、6、7、12和8十种基因型;10个位点等位基因频率分别分布在0.0087-0.3130、0.0087-0.2696、0.0348-0.5826、0.0087-0.3044、0.0261-0.4348、0.0261-0.3217、0.0261-0.6783、0.0087-0.4870、0.0261-0.4783和0.0087-0.4870之间;此10个位点女性的基因型频率分布均符合Hardy-Weinberg平衡。多态信息量除DXS7133和DXS7423外均大于0.50;女性个体识别力从0.89(DXS7133,DXS7423)至0.99(DXS101,DXS6789,DXS7132)。结论此10个X染色体STR位点有较高的个体识别率,在个体识别和女孩亲权鉴定中有较高应用价值,对疾病相关研究有重要意义。

The genetic polymorphisms of X-STR in a Chinese Hui population

Objective To investigate the genetic polymorphism of 10 short tandem repeat (STR) loci on the X chromosome(DXS101, DXS6789, DXS6799, DXS6804, DXS7130, DXS7132, DXS7133, DXS7423, HPRTB, DXS8378) of Chinese Hui population. Methods The 10 X-chromosomal STR loci were performed by PCR following polyacylamide gel electrophoresis and silver stain. Results DNA extracts were obtained from unrelated Hui individuals; the number of alleles in the 10 X-STR loci DXS101, DXS6789, DXS6799, DXS6804, DXS7130, DXS7132, DXS7133, DXS7423, HPRTB and DXS8378 was 9, 8, 4, 6, 6, 6, 4, 4, 5 and 5, respectively; the number of genotypes was 17, 22, 7, 14, 14, 15, 6, 7, 12 and 8, respectively. The distribution of genotypes of these 10 STR systems fit the Hardy-Weinberg equilibrium (P>0.05). The allele frequency of these 10 loci were 0.0087-0.3130, 0.0087-0.2696, 0.0348-0.5826, 0.0087-0.3044, 0.0261-0.4348, 0.0261-0.3217, 0.0261 - 0.6783 , 0.0087-0.4870, 0.0261-0.4783 and 0.0087-0.4870. Polymorphisms information content of 10 STR loci, except for DXS7133(0.48) and DXS7423(0.48), ranged from 0.54(DXS6799) to 0.80(DXS6789); the PD~ (F) were from 0.89 (DXS7133, DXS7423) to 0.99 (DXS6789, DXS7132, DXS101). Conclusion The 10 X-chromosomal STR loci are appropriate for individual identification and paternity testing of a female child as well as for studies on related diseases.