叶酸代谢酶MTHFR基因多态性与男性不育的相关性研究  

Correlation between MTHFR gene polymorphism and male infertility

作　　者：毛君[1] 宋小艳 刘敏娟[1] 向菁菁[1] 唐慧 刘英华[1] MAO Jun;SONG Xiaoyan;LIU Minjuan;XIANG Jingjing;TANG Hui;LIU Yinghua(Center for Reproduction and Genetics,The Affiliated Suzhou Hospital of Nanjing Medical University(Suzhou Municipal University),Suzhou,Jiangsu 215002,China)

机构地区：[1]南京医科大学附属苏州医院(苏州市立医院)生殖与遗传中心,江苏苏州215002

出　　处：《中国优生与遗传杂志》2021年第8期1121-1123,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的初步探讨亚甲基四氢叶酸还原酶(methylenetetrahydrofolat reductase,MTHFR)C677T、A1298C位点单核苷酸多态性与苏南地区男性不育的相关性。方法病例组选取少、弱精症、无精症患者202例,对照组选取精液正常且有正常孕育史的男性202例,采用病例对照研究的方法,利用PCR荧光探针技术分析MTHFR基因C677T和A1298C位点的差异。结果病例组MTHFR C677T位点的CC、CT、TT基因型的发生频率分别为:27.23%、49.50%、23.27%,对照组基因型频率分别为:35.15%、48.51%和16.34%,病例组中TT基因型显著高于对照组,两者比较差异具统计学意义(P<0.05)。病例组和对照组的C、T等位基因频率分别为51.98%、48.02%和59.41%、40.59%,两者比较差异有统计学意义(P<0.05)。另外,病例组MTHFR基因A1298C位点的CC基因型频率和C等位基因频率与对照组的相比,差异均无统计学意义(P>0.05)。结论MTHFR基因C677T位点多态性与苏南地区男性不育具相关性,表明MTHFR C677T多态性可能是苏南地区男性不育的风险因素。Objective To investigate the association between the couples with male infertility southern Jiangsu and their methylenetetrahydrofolate reductase gene C677 T and A1298 C polymorphism.Methods In a case-control study,the MTHFR C677 T and A1298 C polymorphism in the peripheral blood of both male infertility group(202 couples)and control group(202 couples)was detected and analyzed by PCR fluorescent probe technology.Results In the case group frequency distribution of CC,CT,TT genotypes in the MTHFR C677 T locus was respectively,27.23%,49.50%,23.27%,control group genotype frequency,respectively,35.15%,48.51%and 16.34%,in the case group TT genotype is significantly higher than the control group,there is difference with statistical significance(P<0.05).C and T allele frequency between case group and the control group was respectively 59.41%,40.59%and 51.98%,48.02%,and the comparative difference was statistically significant(P<0.05).In addition,the frequency distribution of CC genotype and C allele frequency in MTHFR A1298 C gene between the two groups were not statistically different from those in the control group(P>0.05).Conclusion The MTHFR gene C677 T polymorphism has correlation with idiopathic male infertilityin southern Jiangsu Province and suggests MTHFR the C677 T polymorphism may be a risk factor for male infertility.

关 键 词：男性不育症 亚甲基四氢叶酸还原酶 基因多态性 

分 类 号：R698.2[医药卫生—泌尿科学]