贵州非阻塞性无精症与易感基因多态性的相关研究  

Association investigation of susceptibility gene polymorphism and non-obstructive azoospermia in Guizhou region

作　　者：王婵娟[1,2] 何燕 张婷[1,2] 单可人 禹文峰[1,2] 官志忠 安宇[3] WANG Chanjuan;HE Yan;ZHANG Ting;SHAN Keren;YU Wenfeng;GUAN Zhizhong;AN Yu(Key Laboratory of the Ministry of Education in Endemic and Ethnic Diseases,Guizhou MedicalUniversity,Guiyang,Guizhou 550004,China;Key Laboratory of Guizhou in Medical Molecular Biology,Guizhou Medical University,Guiyang,Guizhou 550004,China;Central Laboratory,Guizhou People's Hospital,Guiyang,Guizhou 550002,China)

机构地区：[1]贵州医科大学地方病与少数民族疾病教育部重点实验室,贵阳550004 [2]贵州省医学分子生物学重点实验室,贵阳550004 [3]贵州省人民医院中心实验室,贵阳550002

出　　处：《重庆医学》2019年第10期1697-1700,1704,共5页Chongqing medicine

基　　金：贵州省卫生和计划生育委员会科学技术基金项目(gzwjkj2014-1-002);贵州省科技厅科学技术基金(黔科合J字[2013]2040号;黔科合J字[2013]2177号);贵州省科技厅国际合作项目(黔科合G字[2011]7038号);贵州省科技厅科技创新人才团队建设项目(黔科合平台人才[2016]5612);贵州省教育厅自然科学研究项目(黔教合KY字(2012)072号);贵州省卫生厅基金项目(gzwkj2012-1-006)

摘　　要：目的探讨贵州人群非阻塞性无精症(NOA)与相关易感基因(PRMT6、PEX10/MMEL1、SOX5、LOC100289473/SIRPA/SIRPG)的4个单核苷酸多态性(SNP)位点的关联。方法选取贵州地区临床确诊的NOA患者(疾病组)及男性健康体检汉族人群(对照组)为研究对象,其中NOA患者已排除其他泌尿生殖系统疾患,无特殊病史及家族史,对所有研究人群采用TaqMan-MGB探针实时荧光聚合酶链反应SNP分型技术分析rs12097821(G/T)、rs2477686(G/C)、rs10842262(G/C)及rs6080550(C/T)4个SNP位点的多态性,并采用SPSS17.0软件进行统计学分析。结果 rs12097821、rs2477686及rs6080550基因型频率分布在疾病组与对照组差异具有统计学意义(P<0.05)。疾病组rs2477686多态性位点C等位基因显著频率高于对照组(P<0.05),疾病组rs12097821和rs6080550多态性位点T等位基因频率也分别显著高于对照组(P<0.05)。而rs10842262位点基因型及等位基因频率分布在疾病组与对照组中的分布差异无统计学意义。结论 rs2477686、rs12097821及rs6080550位点多态性与贵州人群NOA可能存在一定的相关性。Objective To investigate the association of non-obstructive azoospermia(NOA)in Guizhou region with 4 single nucleotide polymorphism(SNP)of related susceptibility genes(PRMT6,PEX10/MMEL1,SOX5,LOC10028947/SIRPA/SIRPG).Methods NOA patients with clinical diagnosis(the disease group)and healthy Han population(the control group)from Guizhou region were selected.NOA patients have been excluded from other urogenital diseases without special medical history or family history.Allelic frequencies of 4 SNP[rs12097821(G/T),rs2477686(G/C),rs10842262(G/C)and rs6080550(C/T)]were identified by Taqman-MGB probe SNP-test.SPSS17.0 software was conducted for statistical analysis.Results The differences in genotype frequency distributions of rs12097821,rs2477686 and rs6080550 between the disease group and the control group were statistically significant(P<0.05).The frequency of C allele at polymorphic site rs2477686 in the disease group was significantly higher than that in the control group(P<0.05),and the frequencies of T allele at polymorphic site rs12097821 and rs6080550 in the disease group were also significantly higher than those in the control group(P<0.05).But there was no significant relationship between the disease group and the control group in rs10842262 SNP.Conclusion Rs12097821,rs2477686 and rs6080550 SNP may have correlation with NOA in Guizhou.

关 键 词：无精子症 贵州 非阻塞性无精症 基因多态性 

分 类 号：R394.3[医药卫生—医学遗传学]