叶酸代谢酶基因多态性在新生儿出生缺陷中的应用效果及干预对策研究
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摘要
目的探讨叶酸代谢酶基因多态性在新生儿出生缺陷中的应用效果及干预对策研究。方法收集2017年6月-2018年3月于我院的孕妇100例,按照随机数字法分为研究组和对照组各50例,两组患者均采用电化学荧光法进行叶酸代谢酶基因多态性分析;研究组孕妇根据基因检测情况给予补充叶酸800μg/日,对照组孕妇常规补充叶酸400μg/日,比较干预前后红细胞叶酸浓度;比较研究组和对照组患者到治疗浓度时间;孕妇生产后,比较研究组和对照组患者的产儿发育情况。结果研究组和对照组叶酸代谢酶基因型分布差异无统计学意义(P>0.05),口服叶酸前后CC型、CT型TT型试者比较差异有统计学意义(P<0.05),补充叶酸后研究组达到治疗浓度时间明显短于对照组患者达到治疗浓度的时间(P<0.05);补充叶酸后研究组和对照组患者的新生儿缺陷率无显著差异(P<0.05)。结论孕妇叶酸代谢酶蛋白编码基因型分布有差异,杂合子CT型最多,纯合子CC和TT型较少;叶酸代谢酶基因多态性与叶酸浓度有密切关系,对于育龄期女性补充叶酸有重要的指导意义;怀孕期间合理补充叶酸能有效降低行新生儿出生缺陷的发生率。
Objective:To investigate the application effect of folic acid metabolic enzyme gene polymorphism in neonatal birth defects and intervention countermeasures. Methods:100 pregnant women who were hospitalized in our hospital from June 2017 to March2018 were collected. According to the random number method,they were divided into research group and control group with50 cases each. Pregnant women in the study group were given 800 microns of folic acid according to the genetic testing,pregnant women in the control group were routinely given 400 microns of folic acid,the red blood cell folic acid concentrations before and after intervention were compared. After the birth of pregnant women,the development of infants in the study group and the control group was compared. Results:There was no statistically significant difference in the distribution of folic acid metabolic enzyme genotypes between the study group and the control group(P>0.05),and there was statistically significant difference between CC type and CT type TT test before and after folic acid administration(P<0.05),and there was no significant difference in neonatal deficiency rate between the study group and the control group after folic acid supplementation(P>0.05). Conclusion:There were differences in the distribution of folate metabolic enzyme protein-coding genotypes in pregnant women. Heterozygous CT type was the most and homozygous CC and TT type were less. The polymorphism of folate metabolizing enzyme gene is closely related to folate concentration,which has important guiding significance for women of childbearing age to take folate supplements.Reasonable folic acid supplementation during pregnancy can effectively reduce the incidence of neonatal birth defects.
Objective:To investigate the application effect of folic acid metabolic enzyme gene polymorphism in neonatal birth defects and intervention countermeasures. Methods:100 pregnant women who were hospitalized in our hospital from June 2017 to March2018 were collected. According to the random number method,they were divided into research group and control group with50 cases each. Pregnant women in the study group were given 800 microns of folic acid according to the genetic testing,pregnant women in the control group were routinely given 400 microns of folic acid,the red blood cell folic acid concentrations before and after intervention were compared. After the birth of pregnant women,the development of infants in the study group and the control group was compared. Results:There was no statistically significant difference in the distribution of folic acid metabolic enzyme genotypes between the study group and the control group(P>0.05),and there was statistically significant difference between CC type and CT type TT test before and after folic acid administration(P<0.05),and there was no significant difference in neonatal deficiency rate between the study group and the control group after folic acid supplementation(P>0.05). Conclusion:There were differences in the distribution of folate metabolic enzyme protein-coding genotypes in pregnant women. Heterozygous CT type was the most and homozygous CC and TT type were less. The polymorphism of folate metabolizing enzyme gene is closely related to folate concentration,which has important guiding significance for women of childbearing age to take folate supplements.Reasonable folic acid supplementation during pregnancy can effectively reduce the incidence of neonatal birth defects.
引文
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[10]张良峰,王新,李海燕,等. N5,N10-亚甲基四氢叶酸还原酶基因多态性及血浆同型半胱氨酸与冠心病的关系[J].中国优生与遗传杂志,2016,24(10):1023-1026.
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[14]姚涛,李三华,宋庆高.叶酸代谢关键酶基因多态性与非综合征性唇腭裂相关性研究进展[J].医学研究生学报,2017,30(3):310-314.
[15]石鸥燕,吴波,张瑞苹,等.叶酸代谢关键酶基因多态性与儿童神经管缺陷的相关性[J].中国优生与遗传杂志杂志,2016,31(10):779-782.
[2]方绮雯,刘振球,王俊,等.上海地区孕妇MTHFR C677T基因多态性与血浆同型半胱氨酸水平的关联性分析[J].中华疾病控制杂志,2017,21(7):702-705.
[3]汪琳,张涛,白克镇. MTHFR基因C677T位点突变及高同型半胱氨酸血症和血管性痴呆的发生相关性[J].中风与神经疾病,2016,33(8):696-698.
[4]田敏,鲁衍强,毛万成,等.思南县女性5,10-亚甲基四氢叶酸还原酶基因多态性调查及其与血清同型半肤氨酸水平相关性的研究[J].生殖与避孕,2016,36(10):787-791.
[5]白羽,吴海伟,刘颖,等.二氢嘧啶脱氢酶和亚甲基四氢叶酸还原酶基因多态性与卡培他滨方案治疗结直肠癌患者药物不良反应的相关性[J].中国临床药理学杂志,2017,33(17):1637-1640.
[6]GallantNM,LeydikerK,WilnaiY,etal.Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California[J]. Molecular Genetics&Metabolism,2017,11(23):612-613.
[7]李栋,于坤坤,马衍辉,等. 5,10-亚甲基四氢叶酸还原酶基因多态性与先天性心脏病关系[J].中国公共卫生,2016,32(10):1377-1381.
[7]任晓蕾,詹轶秋,张春燕,等.亚甲基四氢叶酸还原酶基因多态性与甲氨蝶呤治疗类风湿关节炎疗效和安全性的Meta分析[J].中国临床药理学杂志,2017,33(14):1351-1353.
[8]马亮,刘倩,丛笑,等.糖尿病与非糖尿病性脑梗死患者MTHFR基因多态性C677T与同型半胱氨酸水平相关性研究[J].中华检验医学杂志,2016,39(3):205-209.
[9]陈先睿,黄建琪,吴谨准,等.亚甲基四氢叶酸还原酶基因多态性与儿童急性淋巴细胞白血病化疗中甲氨蝶呤毒性相关性的meta分析[J].临床儿科杂志,2018,36(6):112-131.
[10]张良峰,王新,李海燕,等. N5,N10-亚甲基四氢叶酸还原酶基因多态性及血浆同型半胱氨酸与冠心病的关系[J].中国优生与遗传杂志,2016,24(10):1023-1026.
[11]Rentmeester S T, Pringle J, Hogue C R. An Evaluation of the Addition of Critical Congenital Heart Defect Screening in Georgia Newborn Screening Procedures[J]. Maternal and Child Health Journal,2017,32(14):333-334.
[12]田敏,鲁衍强,毛万成,等.思南县女性5,10-亚甲基四氢叶酸还原酶[13]基因多态性调查及其与血清同型半肤氨酸水平相关性的研究[J].生殖与避孕,2016,36(10):787-791.
[14]姚涛,李三华,宋庆高.叶酸代谢关键酶基因多态性与非综合征性唇腭裂相关性研究进展[J].医学研究生学报,2017,30(3):310-314.
[15]石鸥燕,吴波,张瑞苹,等.叶酸代谢关键酶基因多态性与儿童神经管缺陷的相关性[J].中国优生与遗传杂志杂志,2016,31(10):779-782.