贵州地区非阻塞性无精症与SIRPA-SIRPG基因rs6080550多态性的相关性  

Correlation Between Non-obstructive Azoospermia and SIRPA-SIRPG Gene rs6080550 Polymorphism in Guizhou Population

作　　者：王婵娟[1,2] 何燕 张婷[1,2] 王治海 禹文峰[1,2] 官志忠 安宇 WANG Chanjuan;HE Yan;ZHANG Ting;WANG Zhihai;YU Wenfengi;GUAN Zhizhongi;AN Yu(Key Laboratory of Endemic and Ethnic Diseases,Guizhou Medical University,Guiyang 550004,Guizhou,China;Key Laboratory of Medical Molecular Biology,Guizhou Medical University,Guiyang 550004,Guizhou,China;Central Laboratory,Guizhou Provincial People's Hospital,Guiyang 550002,Guizhou,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,贵州贵阳550004 [2]贵州省医学分子生物学重点实验室,贵州贵阳550004 [3]贵州省人民医院中心实验室,贵州贵阳550002

出　　处：《贵州医科大学学报》2019年第2期169-172,共4页Journal of Guizhou Medical University

基　　金：贵州省卫生计生委科学技术基金资助项目(gzwjkj2014-1-002);贵州省科技厅科学技术基金资助项目[黔科合J字(2013)2040号];贵州省科技厅国际合作项目[黔科合G字(2011)7038号];贵州省科技厅科学技术基金资助项目[黔科合J字(2013)2177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]

摘　　要：目的:研究贵州地区非阻塞性无精症患者与正常男性健康对照人群SIRPA-SIRPG基因单核苷酸多态性(SNP)位点rs6080550基因分型,探讨该位点的基因多态性与非阻塞性无精症的相关性。方法:以贵州地区临床确诊的非阻塞性无精症患者(病例组)及男性健康体检人群(对照组)为研究对象,酚氯仿抽提法提取全血基因组DNA,Taq Man-MGB探针实时荧光定量PCR对SIRPA-SIRPG基因rs6080550位点基因分型,比较两组受检者SIRPA-SIRPG基因rs6080550位点基因型及等位基因频率,同时分析该位点的多态性与贵州地区非阻塞性无精症的相关性。结果:疾病组TT基因型及T等位基因频率均显著高于对照组(P <0. 05),携带rs6080550 TT基因型可能增加人群中非阻塞性无精症的患病风险(OR=13. 52,P <0. 05)。结论:rs6080550位点多态性与贵州人群非阻塞无精症可能相关,携带SIRPA-SIRPG基因rs6080550位点TT基因型可能增加非阻塞性无精症的患病风险。Objective:To investigate the single nucleotide polymorphism(SNP)locus rs6080550 genotyping of SIRPA-SIRPG gene in non-obstructive azoospermia patients and healthy controls in Guizhou area,and to explore the relationship between rs6080550 polymorphism and non-obstructive azoospermia.Methods:Patients with non-obstructive azoospermia(case group)and healthy men(control group)were selected as subjects.The phenol-chloroform extraction method was used to extract the whole blood genomic DNA,and TaqMan-MGB probe real-time fluorescence quantitative PCR was used to type the rs6080550 locus of SIRPA-SIRPG gene.The genotype and allelic frequency of rs6080550 locus of SIRPA-SIRPG gene were compared between the two groups.At the same time,the relationship between the polymorphism of this locus and non-obstructive azoospermia in Guizhou population was analyzed.Results:The frequency of TT genotype and T allele in the case group were significantly higher than those in control group(P<0.05).Carrying rs6080550 TT genotype may increase the risk of non-obstructive azoospermia(OR=13.52,P<0.05).Conclusion:Rs6080550 polymorphism may be associated with non-obstructive azoospermia in Guizhou population.The TT genotype carrying rs6080550 locus of SIRPA-SIRPG gene may increase the risk of non-obstructive azoospermia.

关 键 词：无精子症 信号调节蛋白 基因 多态性 单核苷酸 贵州 

分 类 号：R34[医药卫生—基础医学] R698.2