育龄女性叶酸代谢关键酶基因遗传多态性的调查分析
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摘要
目的调查分析育龄女性叶酸代谢关键酶基因MTHFR和MTRR的总体分布特征,为推广与叶酸代谢关键酶基因多态性相关的"精准医学"检测项目提供分子生物学数据依据。方法选取696例女性作为研究对象,通过提取外周血基因组DNA,利用荧光定量PCR技术确定MTHFR和MTRR基因位点多态性,并与已报道地区进行比较。结果育龄女性MTHFR C677T位点的基因型和等位基因频率与张家口、廊坊、潍坊、郑州、无锡、南宁、江门、沅江、武汉和昆明比较差异有统计学意义(P<0.05),与银川汉族比较差异无统计学意义(P>0.05);MTHFR A1298C位点的基因型和等位基因频率与张家口、廊坊、潍坊、郑州、无锡、武汉及银川汉族比较差异有统计学意义(P<0.05);MTRR A66G位点的基因型和等位基因频率与廊坊、潍坊、郑州、无锡、南宁、沅江、武汉、昆明及银川汉族比较差异有统计学意义(P<0.05)。结论将育龄女性作为群体研究,其MTHFR和MTRR基因多态性分布有其自身特点,根据基因型为孕前及孕期女性制订个体化叶酸增补方案是宁夏未来出生缺陷预防工作的重中之重。
Objective To investigate the overall distribution characteristics of folate metabolism genes(MTHFR and MTRR) of childbearing age women in Yinchuan,and to provide the molecular biological basis for the promotion of "precision medicine" gene tests related to folate metabolism.Methods 696 women with unrelated relationship were enrolled in the obstetrics and gynecology clinic.Genomic DNA was isolated from peripheral blood,and the MTHFR and MTRR genotype were determined by real-time PCR.Then the results were compared with those reported in other areas.Results The genotype and allele frequencies of MTHFR C677 T locus in Yinchuan women were significantly different from those in Zhangjiakou,Langfang,Weifang,Zhengzhou,Wuxi,Nanning,Jiangmen,Yuanjiang,Wuhan and Kunming(P<0.05),and there was no statistically significant differences with Han nationality of Yinchuan;the genotype and allele frequency of MTHFR A1298 C locus were significantly different from those of Zhangjiakou,Langfang,Weifang,Zhengzhou,Wuxi,Wuhan and Yinchuan Han nationality(P<0.05);the genotype and allele frequencies of MTRR A66 G locus were significantly different from those of Langfang,Weifang,Zhengzhou,Wuxi,Nanning,Yuanjiang,Wuhan,Kunming and Yinchuan Han nationality(P<0.05).Conclusion The childbearing age women in Yinchuan was studied as a group,and the polymorphism of MTHFR and MTRR gene has its characteristics.It is important to formulate the individualized folic acid supplementation programs for pre-pregnancy and pregnancy women in the future according to their genotype,aim to prevent birth defects in Ningxia.
Objective To investigate the overall distribution characteristics of folate metabolism genes(MTHFR and MTRR) of childbearing age women in Yinchuan,and to provide the molecular biological basis for the promotion of "precision medicine" gene tests related to folate metabolism.Methods 696 women with unrelated relationship were enrolled in the obstetrics and gynecology clinic.Genomic DNA was isolated from peripheral blood,and the MTHFR and MTRR genotype were determined by real-time PCR.Then the results were compared with those reported in other areas.Results The genotype and allele frequencies of MTHFR C677 T locus in Yinchuan women were significantly different from those in Zhangjiakou,Langfang,Weifang,Zhengzhou,Wuxi,Nanning,Jiangmen,Yuanjiang,Wuhan and Kunming(P<0.05),and there was no statistically significant differences with Han nationality of Yinchuan;the genotype and allele frequency of MTHFR A1298 C locus were significantly different from those of Zhangjiakou,Langfang,Weifang,Zhengzhou,Wuxi,Wuhan and Yinchuan Han nationality(P<0.05);the genotype and allele frequencies of MTRR A66 G locus were significantly different from those of Langfang,Weifang,Zhengzhou,Wuxi,Nanning,Yuanjiang,Wuhan,Kunming and Yinchuan Han nationality(P<0.05).Conclusion The childbearing age women in Yinchuan was studied as a group,and the polymorphism of MTHFR and MTRR gene has its characteristics.It is important to formulate the individualized folic acid supplementation programs for pre-pregnancy and pregnancy women in the future according to their genotype,aim to prevent birth defects in Ningxia.
引文
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[11] 田宇,胡玉芝,鲁衍强,等.无锡女性MTHFR和MTRR基因多态性研究[J].新医学,2014,45(4):253-257.
[12] 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.
[13] 孟宏霞,鲁衍强,付敏,等.江门地区育龄妇女叶酸代谢障碍相关基因遗传多态性的调查分析[J].中国妇幼卫生杂志,2018,9(3):42-45.
[14] 柏杨,鲁衍强,韦焱,等.沅江市汉族女性MTHFR、MTRR基因多态性分布特征[J].中国妇幼保健,2018,33(10):2291-2294.
[15] 王维鹏,鲁衍强,芮欣忆,等.湖北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].中国妇幼保健,2013,28(1):140-143.
[16] 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.
[17] 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,2014,36(11):1216-1219.
[18] 杨玉清,唐菊香,鲁衍强,等.银川市回族和汉族女性MTHFR和MTRR基因单核苷酸多态性分析[J].中国妇幼保健,2015,30(35):6267-6269.
[19] 崔会玲,鲁衍强,马少杰,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.
[20] 张勇,朱正英,王玮,等.四川德阳地区汉族女性人群MTHFR和MTRR基因多态性研究[J].中国循证医学杂志,2012,12(6):631-634.
[21] 中华人民共和国卫生部.中国出生缺陷防治报告[R].北京:中华人民共和国卫生部.2012.
[22] Coppede F.The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects[J].Frontiers in Genetics,2015,6:223.
[2] Wei Bing-bing,Xu Zhuo-qun,Ruan Jun,et al.MTHFR 677C > T and 1298a > C polymorphisms and male infertility risk:a meta-analysis[J].Molecular Biology Reports,2012,39(2):1997-2002.
[3] Youse.an E,kardi MT,allahveisi a.Methylenetetrahydrofolate reductase C677T and a1298C polymorphism in iranian women with idiopathic recurrent pregnancy losses[J].Iranian Red Crescent Medical Journal,2014,16(7):e16763.
[4] Wang X-m,Wu H-y,Reductase QM.Gene C677T polymorphism and risk of preeclampsia:an updated meta-analysis based on 51 studies[J].Archives of Medical Research,2013,44(3):159-168.
[5] Rai V,Yadav U,Kumar P,et al.Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk:a Meta-Analysis from 34 studies[J].PLOS One,2014,9(9):e108552.
[6] Wu Xiao-ming,Wang Xiao-huan,Chan Ying,et al.Folate metabolism gene polymorphisms MTHFR C677T and A1298C and risk for Down syndrome offspring:a meta-analysis[J].European Journal of Obstetrics & Gynecology and Reproductive Biology,2013,167(2):154-159.
[7] 高峡,鲁衍强,马少杰,等.张家口地区汉族女性MTHFR和MTRR基因多态性分布[J].中国优生与遗传杂志,2014,22(11):35-37.
[8] 李俊华,鲁衍强,马少杰,等.廊坊市汉族女性MTHFR和MTRR基因多态性分析[J].基础医学与临床,2014,34(11):1564-1565.
[9] 修霞,牟莹莹,陶华娟,等.潍坊地区孕期女性叶酸利用能力调查[J].山东医药,2013,53(9):31-33.
[10] 顾利,鲁衍强,薛琰,等.郑州市汉族女性MTHFR与MTRR基因多态性研究[J].中国妇幼保健,2017,32(4):786-788.
[11] 田宇,胡玉芝,鲁衍强,等.无锡女性MTHFR和MTRR基因多态性研究[J].新医学,2014,45(4):253-257.
[12] 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.
[13] 孟宏霞,鲁衍强,付敏,等.江门地区育龄妇女叶酸代谢障碍相关基因遗传多态性的调查分析[J].中国妇幼卫生杂志,2018,9(3):42-45.
[14] 柏杨,鲁衍强,韦焱,等.沅江市汉族女性MTHFR、MTRR基因多态性分布特征[J].中国妇幼保健,2018,33(10):2291-2294.
[15] 王维鹏,鲁衍强,芮欣忆,等.湖北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].中国妇幼保健,2013,28(1):140-143.
[16] 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.
[17] 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,2014,36(11):1216-1219.
[18] 杨玉清,唐菊香,鲁衍强,等.银川市回族和汉族女性MTHFR和MTRR基因单核苷酸多态性分析[J].中国妇幼保健,2015,30(35):6267-6269.
[19] 崔会玲,鲁衍强,马少杰,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.
[20] 张勇,朱正英,王玮,等.四川德阳地区汉族女性人群MTHFR和MTRR基因多态性研究[J].中国循证医学杂志,2012,12(6):631-634.
[21] 中华人民共和国卫生部.中国出生缺陷防治报告[R].北京:中华人民共和国卫生部.2012.
[22] Coppede F.The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects[J].Frontiers in Genetics,2015,6:223.
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