长治市女性亚甲基四氢叶酸还原酶基因多态性分析
|
摘要
目的了解亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性在长治女性人群的分布情况。方法采用实时荧光定量聚合酶链反应(q PCR)方法,对829例女性的MTHFR C677T基因多态性进行检测。结果本地区女性人群MTHFR 677位点CC、CT、TT基因型频率分别为17.61%,45.11%,37.27%;C和T等位基因频率为40.17%和59.83%。本地区女性MTHFR的基因型和等位基因频率与郑州、廊坊地区比较差异无统计学意义(P>0.05),与珠海、云南、温州、苏州、西安、长春、齐齐哈尔女性比较差异有统计学意义(P<0.05)。结论本研究中MTHFR C677T基因多态性在女性人群中的分布符合Hardy-Weinberg平衡,为本地女性优生优育及叶酸代谢相关疾病提供流行病学资料。
Objective To investigate the distribution of methylenetetrahydrofolate reductase(MTHFR) C677 T gene polymorphism in female population of Changzhi. Methods The MTHFR C677 T gene polymorphism was detected in 829 women by real-time fluorescent quantitative PCR. Results The frequencies of CC, CT and TT genotypes of MTHFR at locus 677 in the studied female population were 17.61%, 45.11% and 37.27%, respectively. The C and T allele frequencies were 40% and 59.83%, respectively. The genotypes and allele frequencies of MTHFR among fe-males living in Changzhi were comparable with those living in Zhengzhou and Langfang(P>0.05), but were statistically different compared with women living in Zhuhai, Yunnan, Wenzhou, Suzhou, Xi′an, Changchun and Qiqihar(P<0.05).Conclusion The distribution of MTHFR C677 T gene polymorphism in female population in Changzhi follows the Hardy-Weinberg equilibrium, which is epidemiologically relevant for prenatal care and treatment of folate metabolism related diseases.
Objective To investigate the distribution of methylenetetrahydrofolate reductase(MTHFR) C677 T gene polymorphism in female population of Changzhi. Methods The MTHFR C677 T gene polymorphism was detected in 829 women by real-time fluorescent quantitative PCR. Results The frequencies of CC, CT and TT genotypes of MTHFR at locus 677 in the studied female population were 17.61%, 45.11% and 37.27%, respectively. The C and T allele frequencies were 40% and 59.83%, respectively. The genotypes and allele frequencies of MTHFR among fe-males living in Changzhi were comparable with those living in Zhengzhou and Langfang(P>0.05), but were statistically different compared with women living in Zhuhai, Yunnan, Wenzhou, Suzhou, Xi′an, Changchun and Qiqihar(P<0.05).Conclusion The distribution of MTHFR C677 T gene polymorphism in female population in Changzhi follows the Hardy-Weinberg equilibrium, which is epidemiologically relevant for prenatal care and treatment of folate metabolism related diseases.
引文
[1] Rozen R. Genetic predisposition to hyperhomocysteinaemia:deficiency of methylenetetrahydrofolate reductase(MTHFR)[J].Thromb Haemost,1997,78(1):523-526.
[2] Liew SC,Gupta ED. Methylenetetrahydrofolate reductase(MTHFR)C677T polymorphism:epidemiology,metabolism and the associated diseases[J]. Eur J Med Genet, 2015,58(1):1-10.
[3] Rai V. Strong association of C677T polymorphism of methylenetetrahy-drofolate reductase gene with nosyndromic cleft lip/palate(nsCL/P)[J]. Indian J Clin Biochem,2018,33(1):5-15.
[4] Zhang T,Lou J,Zhong R,et al. Genetic variants in the folate pathway and the risk of neural tube defects:a meta-analysis of the published literature[J]. PLoS One,2013,8(4):e59570.
[5] Zhu L.Polymorphisms in the methylene tetrahydrofolate reductase and methionine synthase reductase genes and their correlation with unexplained recurrent spontaneous abortion susceptibility[J].Genet Mol Res,2015,14(3):8500-8508.
[6]李晓宏,鲁衍强,李瑛,等.齐齐哈尔市汉族女性叶酸代谢通路关键酶MTHFR基因多态性的分布情况[J].中国妇幼保健,2016,31(11):2341-2343.
[7]田红雨,鲁衍强,付敏,等.长春市汉族妇女MTHFR与MTRR基因多态性分布研究[J].中国妇幼保健,2017,32(9):1962-1965.
[8]李俊华,鲁衍强,马少杰,等.廊坊市汉族女性MTHFR与MTRR基因多态性分析[J].基础医院与临床, 2014,34(11):1564-1565.
[9]崔会玲,鲁衍强,少杰,等.郑州市汉族女性MTHFR和MTRR基因多态性分布[J].中南大学学报(医学版),2015,40(7):710-714.
[10]杨文方,王加丽,张彤,等.陕西西安地区汉族孕龄女性MTHFR基因多态性的分布研究[J].中国生育健康杂志,2017,28(3):243-247.
[11]宋妙丽,朱耿超,魏佳珍,等.苏州地区育龄妇女MTHFRC677基因多态性分布[J].贵州医科大学学报,2017,42(7):808-811.
[12]童郁,陈磊,邵展,等.温州地区汉族女性亚甲基四氢叶酸还原酶基因多态性的频率特征[J].中国妇幼保健,2017,32(14)3249-3252.
[13]皮婷,夏洪颖,古曦,等.昆明地区妊娠女性MTHFR基因多态性分布研究[J].药物生物技术,2017,24(2):137-140.
[14]尹保民,鲁衍强,汤萍,等.珠海市汉族女性MTHFR、MTRR基因多态性调查[J].中国妇幼保健,2016,31(11):2348-2351.
[15]张婷,谢渊,李毅,等.贵州3个民族亚甲基四氢叶酸还原酶基因的遗传多态性[J].重庆医学,2013,42(28):3413-3415.
[16] Moll S, Varga EA, MS, et al. Homocysteine and MTHFR mutations[J]. Circulation,2015,132(1):e6-9.
[17] Cao YL,Xu JH, Zhang ZF,et al. Association study between methylenetetra hydrofolate reductase polymorphisms and unexplained recurrent pregnancy loss:a meta-analysis[J]. Gene,2013,514(2):105-111.
[18]朱娟娟,唐吉斌.亚甲基四氢叶酸还原酶基因多态性分析的临床应用[J].分子诊断与治疗杂志,2018,10(6):361-366.
[19] Fan SJ,Yang BY,Zhi XY,et al. Combined genotype and haplotype distributions of MTHFR C677T and A1298C polymorphisms:a cross-sectional descriptive study of 13,473 Chinese adult women[J].Medicine, 2016,95(48):e5355.
[2] Liew SC,Gupta ED. Methylenetetrahydrofolate reductase(MTHFR)C677T polymorphism:epidemiology,metabolism and the associated diseases[J]. Eur J Med Genet, 2015,58(1):1-10.
[3] Rai V. Strong association of C677T polymorphism of methylenetetrahy-drofolate reductase gene with nosyndromic cleft lip/palate(nsCL/P)[J]. Indian J Clin Biochem,2018,33(1):5-15.
[4] Zhang T,Lou J,Zhong R,et al. Genetic variants in the folate pathway and the risk of neural tube defects:a meta-analysis of the published literature[J]. PLoS One,2013,8(4):e59570.
[5] Zhu L.Polymorphisms in the methylene tetrahydrofolate reductase and methionine synthase reductase genes and their correlation with unexplained recurrent spontaneous abortion susceptibility[J].Genet Mol Res,2015,14(3):8500-8508.
[6]李晓宏,鲁衍强,李瑛,等.齐齐哈尔市汉族女性叶酸代谢通路关键酶MTHFR基因多态性的分布情况[J].中国妇幼保健,2016,31(11):2341-2343.
[7]田红雨,鲁衍强,付敏,等.长春市汉族妇女MTHFR与MTRR基因多态性分布研究[J].中国妇幼保健,2017,32(9):1962-1965.
[8]李俊华,鲁衍强,马少杰,等.廊坊市汉族女性MTHFR与MTRR基因多态性分析[J].基础医院与临床, 2014,34(11):1564-1565.
[9]崔会玲,鲁衍强,少杰,等.郑州市汉族女性MTHFR和MTRR基因多态性分布[J].中南大学学报(医学版),2015,40(7):710-714.
[10]杨文方,王加丽,张彤,等.陕西西安地区汉族孕龄女性MTHFR基因多态性的分布研究[J].中国生育健康杂志,2017,28(3):243-247.
[11]宋妙丽,朱耿超,魏佳珍,等.苏州地区育龄妇女MTHFRC677基因多态性分布[J].贵州医科大学学报,2017,42(7):808-811.
[12]童郁,陈磊,邵展,等.温州地区汉族女性亚甲基四氢叶酸还原酶基因多态性的频率特征[J].中国妇幼保健,2017,32(14)3249-3252.
[13]皮婷,夏洪颖,古曦,等.昆明地区妊娠女性MTHFR基因多态性分布研究[J].药物生物技术,2017,24(2):137-140.
[14]尹保民,鲁衍强,汤萍,等.珠海市汉族女性MTHFR、MTRR基因多态性调查[J].中国妇幼保健,2016,31(11):2348-2351.
[15]张婷,谢渊,李毅,等.贵州3个民族亚甲基四氢叶酸还原酶基因的遗传多态性[J].重庆医学,2013,42(28):3413-3415.
[16] Moll S, Varga EA, MS, et al. Homocysteine and MTHFR mutations[J]. Circulation,2015,132(1):e6-9.
[17] Cao YL,Xu JH, Zhang ZF,et al. Association study between methylenetetra hydrofolate reductase polymorphisms and unexplained recurrent pregnancy loss:a meta-analysis[J]. Gene,2013,514(2):105-111.
[18]朱娟娟,唐吉斌.亚甲基四氢叶酸还原酶基因多态性分析的临床应用[J].分子诊断与治疗杂志,2018,10(6):361-366.
[19] Fan SJ,Yang BY,Zhi XY,et al. Combined genotype and haplotype distributions of MTHFR C677T and A1298C polymorphisms:a cross-sectional descriptive study of 13,473 Chinese adult women[J].Medicine, 2016,95(48):e5355.