宁夏回族人群X染色体10个短串联重复序列位点的遗传多态性调查  

An investigation for genetic polymorphisms of 10 STR loci on chromosome X of Chinese Hui nationality population in Ningxia region of China

作　　者：冯雪[1] 徐平 托娅[1] 余兵[1] 李生斌[1] 

机构地区：[1]西安交通大学环境与疾病卫生部重点实验室,西北政法学院710061 [2]西电集团医院

出　　处：《中华医学遗传学杂志》2006年第3期346-348,共3页Chinese Journal of Medical Genetics

摘　　要：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)的基因及基因型频率分布。方法随机抽取100名宁夏回族无关个体静脉血,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种等位基因;分别检出17、22、7、14、14、15、6、7、12和8种基因型;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、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;女性个体识别率从0.89(DXS7133,DXS7423)至0.99(DXS101,DXS6789,DXS7132)。结论这10个X染色体短串联重复序列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。Objective To investigate the alleles and genotypes frequency of 10 short tandem repeat （SIR） loci （DXS101,DXS6789,DXS6799,DXS6804,DXS7130, DXS7132,DXS7133, DXS7423, HPRTB, DXS8378）on X chromosome of Chinese Hui nationality population. Methods The study of 10 STR loci was performed by using the techniques of PCR, polyacylamide gel electrophoresis and silver staining. Results Among unrelated Hui individuals, the allele numbers of 10 STIR loci DXS101, DXS6789,DXS6799,DXS6804,DXS7130, DXS7132,DXS7133, DXS7423, HPRTB, DXS8378 were 9,8,4,6,6,6,4,4,5 or 5 respectively; the numbers of genotypes were 17,22,7,14,14,15,6,7,12 or 8 respectively. The distribution of genotypes from these 10 STR systems fitted the Hardy-Weinimrg equilibrium （ P 〉 0.05）. 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 power of discrimination were from 0.89 （DXS7133, DXS7423） to 0.99 （DXS6789, DXS7132, DXS101）. Conclusion The loci of 10 STR on chromosome X are appropriate for individual identification, paternity testing involving a female child and for study on related disease.

关 键 词：X染色体 短串联重复 遗传多态性 

分 类 号：R394[医药卫生—医学遗传学] Q347[医药卫生—基础医学]