中国南方地区体检人群rs9263726等位基因频率的分析  

Analysis of allele frequency of rs9263726 in physical examination population from South China

作　　者：李晓敏[1] 张萍萍[1] 陈泽娜 曹双燕[1] 魏秋静[1] 古洁若[1] 

机构地区：[1]中山大学附属第三医院风湿免疫科,广州510630

出　　处：《新医学》2016年第3期146-149,共4页Journal of New Medicine

摘　　要：目的了解中国南方地区体检人群单核苷酸多态性(SNP)rs9263726位点等位基因频率。方法纳入中国南方地区191名健康体检者,从全血中提取DNA,采用Sanger测序法对所有DNA样本进行检测,分析rs9263726位点等位基因频率。结果 rs9263726位点突变纯合子AA基因型频率为1.57%,野生纯合子GG、突变杂合子GA的基因型频率分别为87.43%、10.99%,A等位基因携带率为12.57%,频率为7.07%。GG分型者的年龄及性别与GA及AA者比较差异无统计学意义(P>0.05)。结论中国南方地区健康体检者rs9263726位点存在突变,该突变无年龄、性别倾向性。Objective To investigate the allele frequency of single nucleotide polymorphism （SNP） rs9263726 in the physical examination population from South China. Methods In this study, 191 healthy in- dividuals receiving physical examination were enrolled. DNA sample was extracted from the whole blood and subject to Sanger sequencing to detect the allele frequency of rs9263726. Results The allele frequency of va- riant homozygote A/A at rs9263726 was 1.57%, 87.43% for wild homozygote G/G, 10. 99% for mutant het- erozygote G/A. The allele frequency of A was 7.07% , and 12. 57% for carrier frequency of A. Age and gen- der did not significantly differ between the individuals carrying G/G and their counterparts carrying G/A or A/ A （ both P 〉 0. 05）. Conclusions The mutation of allele frequency of rs9263726 was observed in the physical examination population from South China. This mutation had no age or gender preponderance.

关 键 词：rs9263726 基因频率 

分 类 号：R194.3[医药卫生—卫生事业管理] R440[医药卫生—公共卫生与预防医学]