广西人群LHCGR基因rs13405728和rs2293275的遗传多态性研究  

Study on rs13405728 and rs2293275 genetic polymorphisms of LHCGR in Guangxi

作　　者：庞晓霞[1] 罗小琼[2] 石凤 凌燕兰[2] 覃莉[2] 李小妹[2] 陈兴鸿 韦雨芯 王俊利[2] PANG Xiaoxia;LUO Xiaoqiong;SHI Feng;LING Yanlan;QIN Li;LI Xiaomei;CHEN Xinghong;WEI Yuxin;WANG Junli(Youjiang Medical University for Nationalities,Baise,Guangxi 533000,China;Reproductive Medicine Center,the Affiliated Hospital of Youjiang Medical University for Nationalities,Baise,Guangxi 533000,China)

机构地区：[1]右江民族医学院,广西百色533000 [2]右江民族医学院附属医院生殖医学中心,广西百色533000

出　　处：《检验医学与临床》2019年第S02期11-15,共5页Laboratory Medicine and Clinic

基　　金：2018年度百色市科学研究与技术开发计划(20182508)。

摘　　要：目的研究广西人群LHCGR基因rs13405728和rs2293275的遗传多态性,并比较其与不同地区人群的分布差异。方法用imLDR技术检测574例广西人rs13405728和rs2293275位点的基因型,直接测序的方法作为验证方法,分析广西人群这两个位点的基因型和等位基因频率,并与其他人群进行比较。结果rs 13405728有AA、AG、GG三种基因型,频率分别为59.4%、34.7%、5.9%,rs2293275有CC、CT、TT三种基因型,频率分别为87.0%、12.5%、0.5%,两位点的基因型和等位基因频率在男性和女性间的差异均无统计学意义(P<0.05)。在与其他人群的比较中,广西人群的rs13405728基因型和等位基因频率与欧洲人、日本人、非洲人的差异均有统计学意义(P<0.001),rs2293275的基因型频率只与欧洲人和非洲人差异有统计学意义(P<0.001),而等位基因频率与中国北京人、欧洲人、日本人、非洲人的差异均有统计学意义(P<0.05)。结论rs13405728和rs2293275在广西人群中存在遗传多态性,其与其他人群的多态性差异可作为疾病易感性和临床表现多样性的理论依据。Objective To investigate polymorphism of LHCGR gene rs13405728 and rs2293275 in Guangxi people and compaire with different ethnic groups.Methods The imLDR technique was used to detect the genotypes of rs13405728 and rs2293275 of 574 Guangxi people,and DNA sequencing was as the verification method.With that,the genotypes and allele frequencies were analyzed and were compared with other ethnic groups.Results Three genotypes AA,AG,GG were found in rs13405728,and the frequencies were 59.4%,34.7%,5.9%,respectively.Other,three genotypes CC、CT、TT were found in rs2293275,and the frequencies were 87.0%,12.5%,0.5%.There was no significant difference in genotypes and allele frequencies between men and women both in rs13405728 and rs2293275(P<0.05).When compared with HapMap-CEU,HapMap-JPT,HapMap-YRI,the genotypes and allele frequencies of rs13405728 in Guangxi pop μLation were significantly different(P<0.001).The genotypes frequency of rs2293275 was only different from that of HapMap-CEU,HapMap-YRI(P<0.001),while the frequency of alleles was significantly different from that of HapMap-HCB,HapMap-CEU,HapMap-JPT,HapMap-YRI(P<0.05).Conclusion The genetic polymorphisms of rs13405728 and rs2293275 in Guangxi population is different from that of other populations,which can be used as a theoretical basis for disease susceptibility and clinical manifestation diversity.

关 键 词：LHCGR 遗传多态性 不同人群 

分 类 号：R73[医药卫生—肿瘤]