王婵娟,何燕,张婷,王治海,禹文峰,官志忠,安宇
WANG Chanjuan,HE Yan,ZHANG Ting,WANG Zhihai,YU Wenfengi,GUAN Zhizhongi,AN Yu

• 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
• 2:贵州省医学分子生物学重点实验室
• 3:贵州省人民医院中心实验室

摘要(Abstract)：

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(KeyWords)： 无精子症;信号调节蛋白;基因;多态性,单核苷酸;贵州
non-obstructive azoospermia;signal regulatory protein;Gene;polymorphism,mononucleotide;Guizhou

Abstract:

Keywords:

基金项目(Foundation): 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]

作者(Author): 王婵娟,何燕,张婷,王治海,禹文峰,官志忠,安宇
WANG Chanjuan,HE Yan,ZHANG Ting,WANG Zhihai,YU Wenfengi,GUAN Zhizhongi,AN Yu

DOI: 10.19367/j.cnki.1000-2707.2019.02.009

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