内蒙古农区蒙古族D3S1358、D13S317和D5S818基因座位的遗传多态性  

Genetic polymorphisms of short tandem repeat loci D3S1358,D13S317,D5S818 from Nongqu Mongolia

作　　者：刘淑萍[1] 苏秀兰[1] 毕力夫[1] 李彩萍[2] 邱琳[2] 王凤岐 

机构地区：[1]内蒙古医学院分子生物学研究中心,呼和浩特010059 [2]内蒙古医学院附属医院内科,呼和浩特010059

出　　处：《中华医学遗传学杂志》2004年第3期297-298,共2页Chinese Journal of Medical Genetics

基　　金：内蒙古自治区自然科学基金 (2 0 0 1 0 90 6- 1 6)~~

摘　　要：目的　了解内蒙古蒙古农区族人群 3个短串联重复序列 ( shorttandem repeats,STR)基因座 D3S135 8、D13S317、D5 S818的遗传多态性分布 ,获取相应多态位点的群体遗传学数据。方法　采用PCR扩增技术及聚丙烯酰胺凝胶电泳方法 ,对 2 91名蒙古族个体的 3个 STR基因座的等位基因频率进行分析。结果　 3个基因座 D3S135 8、D13S317、D5 S818分别检出 6、10、8个等位基因 ,多态性分布均符合Hardy- Weinberg平衡定律 ( P>0 .0 5 )。杂合度大于 0 .7332 ,多态信息含量大于 0 .6 884 ,累积个人识别力及非父排除率分别为 0 .9991和 0 .980 6。结论　上述 3个基因座均具有较高的杂合度和多态信息量 ,是较理想的遗传标记系统 。Objective To understand the allele structure and genetic polymorphism at D3S1358, D13S317, D5S818 short tandem repeats (STRs) loci in Nongqu Mongolian of China, and to construct a preliminary database. Methods The allele frequencies of the three STRs loci in 291 unrelated individuals from Nongqu Mongolian were analyzed by polymerase chain reaction and polyacrylamide gel electrophoresis. Results Six, ten, and eight alleles were observed at D3S1358, D13S317, D5S818, respectively, and all 3 loci met Hardy-Weinberg equilibrium. The statistical analysis of 3 STR loci showed the heterozygosity ≥0.7332, the polymorphic information content ≥0.6884; the combined discrimination power and the probabilities of paternity exclusion were 0.9991 and 0.9806 respectively. Conclusion All three of the loci in this study were found to have high heterozygosity and polymorphic information content, so they could provide useful markers for genetic purposes. These results could serve as valuable data to enrich the Mongolian genetic database and play an important role in Chinese population genetic application.

关 键 词：蒙古族 短串联重复序列 聚合酶链反应 遗传多态性 

分 类 号：R394[医药卫生—医学遗传学]