内蒙古阿荣旗汉族育龄女性叶酸代谢关键酶基因位点多态性分析
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摘要
目的通过对呼伦贝尔市阿荣旗育龄汉族女性叶酸代谢关键酶5,10-亚甲基四氢叶酸还原酶(MTHFR)(C677T,A1298C)、甲硫氨酸合成酶还原酶(MTRR)(A66G)基因多态性分布特征进行研究,并与已报道的其他地区样本进行比较,初步了解研究对象叶酸代谢能力,为指导当地孕期叶酸保健提供一定的参考依据。方法入组人群为2017年间在该院进行孕期体检的育龄汉族女性428人,采集并提取口腔黏膜上皮脱落细胞DNA,利用荧光定量PCR方法检测并分析受检者MTFHR(C677T,A1298C)和MTRR (A66G)位点基因型与等位基因频率,通过与其他已报道研究群体进行比较,获得阿荣旗地区汉族女性上述基因位点多态性分布特征。结果阿荣旗汉族女性MTHFR C677T、A1298C位点基因型与等位基因频率与其他已报道地区比较,差异具有统计学意义(P<0. 01),其中MTHFR 677TT基因型频率明显高于宁夏银川、江苏苏州、湖南湘潭、云南昆明、广西南宁、海南琼海等地,低于河南乡新。结论内蒙古自治区呼伦贝尔市阿荣旗地区汉族女性叶酸代谢关键酶基因位点多态性特征与其他部分已报道地区比较具有一定的差别,本研究结果可为当地制定孕期个性化叶酸补服提供一定参考依据。
Objective To research the distribution characteristics of folic acid metabolic key enzymes MTHFR C677 T,A1298 C and MTRR A66 G gene polymorphisms in Han women of childbearing age in Arun Banner of Hulunbeir,compare with the data reported in other areas,preliminarily understand folic acid metabolic capability of the study object,provide a certain reference basis for directing gestational folic acid health care in Arun Banner. Methods A total of 428 Han women of childbearing age receiving prenatal physical examination in Arun Banner Municipal Maternal and Child Health Care Hospital in 2017 were selected,DNA of oral mucosal epithelial exfoliative cells was collected and extracted. Fluorescent quantitative PCR was used to detect and analyze the frequencies of genotypes and alleles of MTFHR( C677 T,A1298 C) and MTRR( A66 G),then the results were compared with the data reported in other areas to obtain distribution characteristics of polymorphisms of above-mentioned genes in Han women in Arun Banner of Inner Mongolia. Results There were statistically significant differences in the frequencies of MTHFR C677 T and A1298 C genotypes and alleles between Han women of childbearing age in Arun Banner of Inner Mongolia and other areas( P<0. 01),the frequencies of MTHFR 677 TT genotypes in Han women of childbearing age in Arun Banner of Inner Mongolia was statistically significantly higher than those in Han women in Yinchuan,Suzhou,Xiangtan,Kunming,Nanning,and Qionghai,which were lower than that in Xinxiang of He'nan. Conclusion There is a certain difference in gene polymorphisms of folic acid metabolic key enzymes between Han women of childbearing age in Arun Banner of Inner Mongolia and the data reported in other areas,the study result can provide a certain reference basis for personalized folic acid supplementation during pregnancy.
Objective To research the distribution characteristics of folic acid metabolic key enzymes MTHFR C677 T,A1298 C and MTRR A66 G gene polymorphisms in Han women of childbearing age in Arun Banner of Hulunbeir,compare with the data reported in other areas,preliminarily understand folic acid metabolic capability of the study object,provide a certain reference basis for directing gestational folic acid health care in Arun Banner. Methods A total of 428 Han women of childbearing age receiving prenatal physical examination in Arun Banner Municipal Maternal and Child Health Care Hospital in 2017 were selected,DNA of oral mucosal epithelial exfoliative cells was collected and extracted. Fluorescent quantitative PCR was used to detect and analyze the frequencies of genotypes and alleles of MTFHR( C677 T,A1298 C) and MTRR( A66 G),then the results were compared with the data reported in other areas to obtain distribution characteristics of polymorphisms of above-mentioned genes in Han women in Arun Banner of Inner Mongolia. Results There were statistically significant differences in the frequencies of MTHFR C677 T and A1298 C genotypes and alleles between Han women of childbearing age in Arun Banner of Inner Mongolia and other areas( P<0. 01),the frequencies of MTHFR 677 TT genotypes in Han women of childbearing age in Arun Banner of Inner Mongolia was statistically significantly higher than those in Han women in Yinchuan,Suzhou,Xiangtan,Kunming,Nanning,and Qionghai,which were lower than that in Xinxiang of He'nan. Conclusion There is a certain difference in gene polymorphisms of folic acid metabolic key enzymes between Han women of childbearing age in Arun Banner of Inner Mongolia and the data reported in other areas,the study result can provide a certain reference basis for personalized folic acid supplementation during pregnancy.
引文
[1]吴金霞,王红云,王桂香.内蒙古地区2008年至2013年出生缺陷结果分析[J].内蒙古医学杂志,2015,47(8):959-961.
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[16]王淑媛,鲁衍强,马少杰,等.湘潭市汉族女性MTHFR和MTRR基因多态性分布及其与血浆Hcy水平的关系[J].天津医药,2014,42(12):1201-1205.
[17]万莉娟,鲁衍强,芮欣忆,等.云南省汉族女性亚甲基四氢叶酸还原酶和甲硫氨酸合成酶还原酶基因多态性分布研究[J]中国现代医学杂志,2013,23(5):46-50.
[18]沈寅琛,鲁衍强,李瑛,等.南宁地区汉族女性MTHFR与MTRR基因多态性研究[J].中国优生与遗传杂志,2015,23(7):18-19,56.
[19]颜珠苗,鲁衍强,李瑛,等.琼海市汉族女性MTHFR和MTRR基因多态性分布研究[J].海南医学院学报,2013,19(1):18-20.
[20]任爱国.围受孕起增补叶酸预防神经管缺陷指南(2017)[J].中国生育健康杂志,2017,28(5):401-410.
[21]包华,赵磊.呼伦贝尔地区缺血性脑卒中患者危险因素分析[J].中国实用神经疾病杂志,2015,18(9):75-76.
[22]张星光,苏俐,郭淑怡,等.内蒙古地区育龄妇女对出生缺陷知识认知程度及地域差异分析[J].临床合理用药杂志,2014,7(4):16-17.
[2]陈浩,王园,郭浩岩.三省市育龄妇女免费服用叶酸政策接受度的影响因素分析[J].现代预防医学,2015,42(13):2369-2371.
[3]郭淑怡,张星光.内蒙古12地区儿童出生缺陷患病状况调查[J].现代预防医学,2013,40(21):3964-3965,3973.
[4]戴宝贞,苏亚菲,郝小金,等.内蒙古自治区0~3岁儿童出生缺陷状况调查分析[J].中国计划生育学杂志,2012,20(10):683-686.
[5]Waskiewicz A,Piotrowski W,Broda G,et al.Impact of MTHFRC677T gene polymorphism and vitamins intake on homocysteine concentration in the Polish adult population[J].Kardiol Pol,2011,69(12):1259-1264.
[6]Weisberg I,Tran P,Christensen B,et al.A second genetic polymorphism in methylenetetrahydrofolate reductase(MTHFR)associated with decreased enzyme activity[J].Mol Genet Metab,1998,64(3):169-172.
[7]Wilcken B.Geographical and ethnic variation of the 677C>T allele of5,10methylenetetrahydrofolate reductase(MTHFR):findings from over 7000 newborns from 16.areas world wide[J].J Med Genet,2003,40(8):619-625.
[8]Wang Y,Liu Y,Ji W,et al.Analysis of MTR and MTRR polymorphisms for neural tube defects risk association[J].Medicine(Baltimore),2015,94(35):e1367.
[9]Ouyang S,Li Y,Liu Z,et al.Association between MTR A2756Gand MTRR A66G polymorphisms and maternal risk for neural tube defects:a meta-analysis[J].Gene,2013,515(2):308-312.
[10]马路密,鲁衍强,李瑛,等.尚志市汉族女MTHFR与MTRR基因多态性调查[J].实用预防医学,2015,22(3):289-291.
[11]郝友英,赵红,鲁衍强,等.新疆维吾尔族和汉族女性MTH-FR和MTRR基因单核苷酸多态性比较[J].中国妇幼保健,2014,29(21):24-26.
[12]刘晓玲,鲁衍强,李瑛,等.银川市汉族女性MTHFR与MTRR基因多态性研究[J].宁夏医科大学学报,2014,35(11):1216-1219.
[13]严倩,鲁衍强,李瑛,等.烟台市汉族女性MTHFR和MTRR基因多态性的分布特征[J].山东大学学报(医学版),2014,52(1):79-84.
[14]卢光荣,鲁衍强,马少杰,等.新乡市汉族孕龄女性MTHFR与MTRR基因多态性研究[J].河南医学研究,2014,23(7):7-10.
[15]吴文庆,周玉珍,鲁衍强,等.苏州市汉族女性MTHFR与MTRR基因多态性[J].江苏医药,2015,41(1):71-73.
[16]王淑媛,鲁衍强,马少杰,等.湘潭市汉族女性MTHFR和MTRR基因多态性分布及其与血浆Hcy水平的关系[J].天津医药,2014,42(12):1201-1205.
[17]万莉娟,鲁衍强,芮欣忆,等.云南省汉族女性亚甲基四氢叶酸还原酶和甲硫氨酸合成酶还原酶基因多态性分布研究[J]中国现代医学杂志,2013,23(5):46-50.
[18]沈寅琛,鲁衍强,李瑛,等.南宁地区汉族女性MTHFR与MTRR基因多态性研究[J].中国优生与遗传杂志,2015,23(7):18-19,56.
[19]颜珠苗,鲁衍强,李瑛,等.琼海市汉族女性MTHFR和MTRR基因多态性分布研究[J].海南医学院学报,2013,19(1):18-20.
[20]任爱国.围受孕起增补叶酸预防神经管缺陷指南(2017)[J].中国生育健康杂志,2017,28(5):401-410.
[21]包华,赵磊.呼伦贝尔地区缺血性脑卒中患者危险因素分析[J].中国实用神经疾病杂志,2015,18(9):75-76.
[22]张星光,苏俐,郭淑怡,等.内蒙古地区育龄妇女对出生缺陷知识认知程度及地域差异分析[J].临床合理用药杂志,2014,7(4):16-17.