MTHFR基因多态性在台州地区原发性男性不育症中的研究

详细信息    查看全文 | 推荐本文 |

英文篇名：Study on MTHFRgene polymorphism in primary male infertility 作者：徐佳佳 ; 陈文举 ; 梁玲芝 ; 楼永良 英文作者：XU Jia-jia;CHEN Wen-ju;LIANG Ling-zhi;LOU Yong-liang;School of Laboratory Medicine & Life Sciences,Wenzhou Medical University;Department of Clinical Laboratory,Taizhou Central Hospital; 关键词：MTHFR ; 基因多态性 ; 原发性男性不育 英文关键词：MTHFR;;Gene polymorphisms;;Primary male infertility 中文刊名：SZYX 英文刊名：Journal of Reproductive Medicine 机构：温州医科大学检验医学院生命科学学院;台州市中心医院检验科; 出版日期：2019-07-15 出版单位：生殖医学杂志 年：2019 期：v.28 语种：中文; 页：SZYX201907012 页数：4 CN：07 ISSN：11-4645/R 分类号：65-68

摘要

目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T和A1298C位点多态性与原发性男性不育症的关系。方法选取2018年1～7月在台州市中心医院就诊的的原发性男性不育患者104例为研究对象,选取同期健康查体的已育男性108例为对照组。采用荧光定量PCR技术检测104例男性不育症患者和108例健康已育男性的MTHFR C677T和A1298C位点的多态性,统计学分析不同基因型男性与原发性不育的相关性。结果原发性男性不育组和健康对照组MTHFRC677T位点TT基因型频率分别为23.08%、12.96%,T等位基因频率分别为43.75%、33.33%,两组间基因型频率和基因频率均存在显著性差异(χ~2=6.975,χ~2=4.859,P<0.05);原发性男性不育组和健康对照组的MTHFR A1298C位点CC基因型频率和C等位基因频率均无显著性差异(χ~2=0.108,χ~2=0.170,P>0.05)。结论 MTHFR基因677位点C-T变异与原发性男性不育具有相关性,1298位点多态性与原发性男性不育无显著相关性。
        Objective:To investigate the relationship between the polymorphisms of the C677 Tand A1298 Clocus of the methylenetetrahydrofolate reductase(MTHFR)gene and the primary male infertility.Methods:The C677 T and A1298 C polymorphisms were detected by using real-time fluorescent quantitative PCR in 104 male patients with primary infertility and 108 healthy males.Results:The frequencies of TT genotype of MTHFR C677 Tlocus in the primary male infertility group and the healthy control group were 23.08% and 12.96% respectively,and the T allele frequencies were 43.75% and 33.33% respectively.There were significant differences in genotype frequencies and gene frequencies between the two groups(χ~2=6.975,χ~2=4.859,P<0.05).There was no significant difference in the frequency of CC genotype and the frequency of C allele in the MTHFR A1298 Clocus between the primary male infertility group and the health control group(χ~2=0.108,χ~2=0.170,P>0.05).Conclusions:The C-T mutation at 6 7 7 locus of MTHFR gene is correlated with male primary infertility.The polymorphism of 1 2 9 8 locus is not significantly correlated with primary male infertility.

引文

[1]戴莉,史轶超,李红.无精子症因子和男性不育的研究进展[J].中华医学遗传学杂志,2014,3:174-179.
    [2]Gava MM,Kayaki EA,Bianco B,et a1.Polymorphisms in folate-related enzyme genes in idiopathic infertile Brazilian men[J].Reprod Sci,2011,18:1267-1272.
    [3]王勉勉,李喜梅,唐少华.MTHFR基因多态性与自然流产的关系[J].中国妇幼保健,2017,32:92-94.
    [4]王贤军,罗丽,王莉,等.不明原因复发性流产与MTHFRC677T突变的关系[J].中华检验医学杂志,2015,38:243-246.
    [5]Zhao M,Ren Y,Shen L,et a1.Association between MTHFRC677T and A1298C polymorphisms and NSCL/P risk in Asians:a meta-analysis[J/OL].PLoS One,2014,9:e88242.
    [6]Yang B,Fan S,Zhi X,et a1.Associations of MTHFR gene polymorphisms with hypertension and hypertension in pregnancy:a meta-analysis from 114studies with 15411cases and 21970controls[J/OL].PIoS One,2014,9:e87497.
    [7]费前进,黄航,金建远,等.精子DNA损伤在男性不育中的诊断价值[J].中华医学遗传学杂志,2014,31:60-64.
    [8]张建武,陈亮.MTHFR C677T位基因多态性及血浆同型半胱氨酸与冠心病心力衰竭的研究进展[J].中国医药导报,2017,14:50-52.
    [9]刘丹琦,盛阳昊,王萍,等.5,10-亚甲基四氢叶酸还原酶基因多态性与不育不孕症相关性研究进展[J].中国临床药理学与治疗学,2015,20:235-240.
    [10]邹宇洁,常硕,庞湘力,等.亚甲基四氢叶酸还原酶基因C677T多态性与男性不育的相关性及机制研究[J].生殖医学杂志,2017,26:1177-1181.
    [11]Mfady DS,Sadiq MF,Khabour OF,et a1.Associations of variants in MTHFR and MTRR genes with male infertility in the Jordanian population[J].Gene,2014,536:40-44.
    [12]Wu W,Shen O,Qin Y,et al.Methylenetetrahydrofolate reductase C677T polymorphism and the risk of male infertility:a meta-analysis[J].Int J Androl,2012,35:18-24.
    [13]胡斐,艾继辉,谷龙杰.186例少弱精子症患者MTHFR基因多态性观察[J].生殖医学杂志,2017,26:269-271.
    [14]周生辉,孙秀芹,牛学英,等.济宁地区汉族人群MTHFR基因的SNP与非梗阻性无精子症和重度少弱精子症相关性分析[J].中国优生与遗传杂志,2018,26:111-114.
    [15]马芳芳,谭振军,王厚照.厦门地区MTHFR基因C677T多态性与男性不育的相关性研究[J].中国优生与遗传杂志,2017,25:16-17.
    [16]Weiner AS,Boyarskikh UA,Voronina EN,et al.Polymorphisms in folate-metabolizing genes and risk of idiopathic male infertility:a study on a Russian population and a meta-analysis[J].Fertil Steril,2014,101:87-94.
    [17]Ni W,Li H,Wu A,et al.Lack of association between genetic polymorphisms in three folate-related enzyme genes and male infertility in the Chinese population[J].J Assist Reprod Genet,2015,32:369-374.