WNT7A基因rs139790545多态性与汉族非梗阻性无精症的关系研究  

Association between WNT7A gene rs139790545 polymorphism and non obstructive azoospermia in Han nationality

作　　者：傅文婷 张欣宗[1] 钟兴明[1] 赵文忠[1] 李铭臻[1] Fu Wenting;Zhang Xinzong;Zhong Xingming;Zhao Wenzhong;Li Mingzhen(NHC Key Laboratory of Male Reproduction and Genetics,Family Planning Research Institute of Guangdong Province,Guangzhou 510600,China)

机构地区：[1]广东省计划生育科学技术研究所、国家卫生健康委员会、男性生殖与遗传重点实验室,广东广州510600

出　　处：《中国产前诊断杂志（电子版）》2020年第4期19-22,共4页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：广东省计划生育科学技术研究所科研基金(S2018005)。

摘　　要：目的探讨汉族人群WNT7A基因SNP rs139790545多态性及其与非梗阻性无精症的关系。方法选择47例汉族非梗阻性无精症患者作为非梗阻性无精症组,同期选择25例健康志愿者作为对照组,采集静脉血,氯酚仿抽提法提取DNA,采用实时荧光定量PCR技术检测WNT7A基因SNP rs139790545位点的基因型和等位基因频率,分析SNP rs139790545位点的多态性及其与汉族非梗阻性无精症的关系。结果健康志愿者rs139790545位点基因型和等位基因的观察值和期望值吻合良好,符合Hardy-Weinberg平衡定律(P>0.05)。非梗阻性无精症患者AA基因型及A等位基因频率高于健康志愿者,rs139790545AA基因型可能增加汉族男性非梗阻性无精症的风险(OR=2.842,95%CI=1.776-3.988,P<0.05)。结论汉族男性WNT7A基因rs139790545多态性可能与非梗阻性无精症发病有关,携带AA基因型增加汉族男性患非梗阻性无精症的风险。Objective To investigate the SNP rs139790545 polymorphism in WNT7A gene and its relationship with non obstructive azoospermia in Han population.Methods 47 cases of Han patients with non obstructive azoospermia were selected as non obstructive azoospermia group and 25 healthy volunteers were selected as control group.Venous blood samples were collected and DNA was extracted by chlorophenol form extraction.Genotype and allele frequency at SPNrs139790545 in WNT7A gene were detected by real-time quantitative PCR,polymorphism of SNP rs139790545 and its relationship with non obstructive azoospermia in Han nationality were analyzed.Results Observed values at rs139790545 genotype had good agreement with expected values,and according to hardy Weinberg equilibrium law(P>0.05).Frequencies of AA genotype and A allele were higher in non obstructive azoospermia patients than in Healthy volunteers.rs139790545 AA genotype may increase risk of non obstructive azoospermia in Han men(or=2.842,95%CI=1.776-3.988,P<0.05).Conclusion Rs139790545 polymorphism in WNT7A gene may be associated with the development of non obstructive azoospermia in Han men.AA genotype may increase the risk of non obstructive azoospermia in Han men.

关 键 词：WNT7A基因 单核苷酸多态性 非梗阻性无精症 汉族 

分 类 号：R394.3[医药卫生—医学遗传学]