中国汉族人群15个STR基因座的等位基因频率调查

目的 调查10071名中国汉族无关个体15个STR基因座的等位基因的类型及其频率，并与以往相关文献报道的汉族群体资料进行统计比较。方法 应用PowerPlex~(TM)16荧光标记复合扩增系统，对10071份中国汉族无关个体的血样DNA进行15个STR基因座的复合扩增；用ABI 377或3100遗传分析仪对扩增产物进行分型，统计15个STR基因座的基因频率。结果 15个STR基因座共发现226个等位基因，频率在0.0001～0.5512；除D8S1179基因座外，其它基因座均发现稀有等位基因，数目1～7个不等，共34个。在中国汉族人群，稀有D21S11基因座的等位基因32.1和36.2，D18S51基因座的等位基因15.2和17.2，Penta E基因座的等位基因15.2、17.4、18.4、19.4、26和27，D7S820基因座的等位基因9.2、10.1、11.1和15，Penta D基因座的等位基因18、19和20，TPOX基因座的等位基因14，FGA基因座的等位基因13，以及较常见但欧洲稀有的D21S11基因座的等位基因30.3和D7S820基因座的等位基因9.1和9.2等均为首次报道。结论 大样本基因频率调查有利于观察STR基因座的稀有等位基因；本研究结果与以往相关文献报道的结果有不同程度的差异。

A study on genetic polymorphism and rare alleles of 15 STR loci in 10071 individuals in Guangdong Han population

Objective To study the genetic polymorphism and frequencies of 15 STR loci in 10071 unrelated individuals of Han nationality, which are compared with the data reported previously. Methods 15 STR loci were amplified in DNA samples from 10071 unrelated individuals in Guangdong Han population using PowerPlex~(TM) 16 system, which were genotyped with ABI 377 or 3100 Genetic Analyzer. Frequencies for 15 STR loci were obtained. Results Except D8S1179 locus, rare alleles were found in the other 14 STR loci. The number of rare alleles ranged froml to 7 in the 14 STR loci ,which increased up to 34 rare alleles, including D21 S11 (32.1 and 36.2), D18S51 (15.2 and 17.2), Penta E (15.2, 17.4, 18.4, 19.4, 26 and 27), D7S820 (9.2, 10.1, 11.1 and 15), Penta D (18, 19 and 20), TPOX (14) and FGA (13) which were detected the first time and D21S11 (30.3), D7S820(9.1 and 9.2) which were frequently seen in the population although infrequent in European population. Conclusion More rare alleles can be detected with genetic polymorphism data from a lager number of individuals and more credible frequencies of alleles be obtained.