• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

对法国神经管缺陷患者亚甲基四氢叶酸还原酶基因C677T突变的筛查。

Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects.

作者信息

Mornet E, Muller F, Lenvoisé-Furet A, Delezoide A L, Col J Y, Simon-Bouy B, Serre J L

机构信息

Laboratoire de Cytogénétique et Génétique Moléculaire Humaine, Université de Versailles-Saint Quentin, France.

出版信息

Hum Genet. 1997 Oct;100(5-6):512-4. doi: 10.1007/s004390050544.

DOI:10.1007/s004390050544
PMID:9341863
Abstract

We report the analysis of the distribution of the C677T mutation on the methylenetetrahydrofolate reductase (MTHFR) gene in prenatally diagnosed neural tube defects (NTD) cases and controls. In contrast to previous reports, we found the same distribution in fetuses with NTD and controls, which suggests that the MTHFR C677T mutation cannot be regarded as a genetic risk factor for NTD.

摘要

我们报告了对产前诊断的神经管缺陷（NTD）病例和对照中，亚甲基四氢叶酸还原酶（MTHFR）基因上C677T突变分布的分析。与之前的报告相反，我们发现在患有NTD的胎儿和对照中该突变分布相同，这表明MTHFR C677T突变不能被视为NTD的遗传风险因素。

相似文献

1
Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects.对法国神经管缺陷患者亚甲基四氢叶酸还原酶基因C677T突变的筛查。
Hum Genet. 1997 Oct;100(5-6):512-4. doi: 10.1007/s004390050544.
2
The C677T polymorphism of the methylenetetrahydrofolate reductase gene in Mexican mestizo neural-tube defect parents, control mestizo and native populations.墨西哥梅斯蒂索神经管缺陷患者父母、对照梅斯蒂索人群及原住民人群中亚甲基四氢叶酸还原酶基因的C677T多态性
Ann Genet. 2000 Apr-Jun;43(2):89-92. doi: 10.1016/s0003-3995(00)90012-1.
3
Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group.胱硫醚β-合酶与亚甲基四氢叶酸还原酶（MTHFR）基因分型在神经管缺陷中的可能相互作用。神经管缺陷协作组
Clin Genet. 1999 Aug;56(2):142-4. doi: 10.1034/j.1399-0004.1999.560208.x.
4
Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphisms: an examination of C677T and A1298C mutations.新生儿和胎儿亚甲基四氢叶酸还原酶基因多态性：C677T和A1298C突变检测
Am J Hum Genet. 2000 Oct;67(4):986-90. doi: 10.1086/303082. Epub 2000 Aug 24.
5
High frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in Northern Italy.意大利北部亚甲基四氢叶酸还原酶（MTHFR）基因中C677T突变的高频率。
Thromb Haemost. 1997 Aug;78(2):963-4.
6
Polymorphism in methylenetetrahydrofolate reductase gene: its impact on plasma homocysteine levels and carotid atherosclerosis in ESRD patients receiving hemodialysis.亚甲基四氢叶酸还原酶基因多态性：其对接受血液透析的终末期肾病患者血浆同型半胱氨酸水平及颈动脉粥样硬化的影响。
Nephron. 2001 Mar;87(3):249-56. doi: 10.1159/000045922.
7
Linkage disequilibrium of MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects(NTD).德国人群中MTHFR基因677C/T-1298A/C基因型的连锁不平衡及神经管缺陷（NTD）先证者的关联研究
Am J Med Genet. 1999 Nov 5;87(1):23-9.
8
[C677T genetic polymorphism of methylenetetrahydrofolate reductase in premature coronary heart disease].亚甲基四氢叶酸还原酶C677T基因多态性与早发冠心病
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1999 Apr;21(2):118-21.
9
C677T substitution in the methylenetetrahydrofolate reductase gene as a risk factor for venous thrombosis and arterial disease in selected patients.亚甲基四氢叶酸还原酶基因中的C677T替换作为特定患者静脉血栓形成和动脉疾病的危险因素。
Haematologica. 1999 Sep;84(9):824-8.
10
The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group.亚甲基四氢叶酸还原酶（MTHFR）的热不稳定变体并非美国白种人神经管缺陷的主要危险因素。神经管缺陷协作组。
Neurogenetics. 1997 Sep;1(2):149-50. doi: 10.1007/s100480050022.

引用本文的文献

1
Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity.对44000名高度近亲结婚的英国巴基斯坦人和孟加拉人群体中常见疾病的广泛隐性影响。
Am J Hum Genet. 2025 Jun 5;112(6):1316-1329. doi: 10.1016/j.ajhg.2025.03.020. Epub 2025 Apr 29.
2
Folate Pathway Gene Single Nucleotide Polymorphisms and Neural Tube Defects: A Systematic Review and Meta-Analysis.叶酸代谢途径基因单核苷酸多态性与神经管缺陷：一项系统评价和荟萃分析
J Pers Med. 2022 Sep 29;12(10):1609. doi: 10.3390/jpm12101609.
3
Study of C677T Methylene Tetrahydrofolate Reductase Gene Polymorphism as a Risk Factor for Neural Tube Defects.
C677T亚甲基四氢叶酸还原酶基因多态性作为神经管缺陷危险因素的研究。
Asian J Neurosurg. 2021 Sep 14;16(3):554-561. doi: 10.4103/ajns.AJNS_372_20. eCollection 2021 Jul-Sep.
4
Folate action in nervous system development and disease.叶酸在神经系统发育和疾病中的作用。
Dev Neurobiol. 2018 Apr;78(4):391-402. doi: 10.1002/dneu.22579. Epub 2018 Feb 6.
5
Folate receptor 1 is necessary for neural plate cell apical constriction during neural tube formation.在神经管形成过程中，叶酸受体1对神经板细胞顶端收缩是必需的。
Development. 2017 Apr 15;144(8):1518-1530. doi: 10.1242/dev.137315. Epub 2017 Mar 2.
6
Variants in MTHFR gene and neural tube defects susceptibility in China.中国MTHFR基因变异与神经管缺陷易感性
Metab Brain Dis. 2015 Aug;30(4):1017-26. doi: 10.1007/s11011-015-9662-4. Epub 2015 Apr 10.
7
Mapping eQTLs in the Norfolk Island genetic isolate identifies candidate genes for CVD risk traits.在诺福克岛遗传隔离群体中定位 eQTL 可鉴定 CVD 风险特征的候选基因。
Am J Hum Genet. 2013 Dec 5;93(6):1087-99. doi: 10.1016/j.ajhg.2013.11.004.
8
Neural tube defects, folic acid and methylation.神经管缺陷、叶酸和甲基化。
Int J Environ Res Public Health. 2013 Sep 17;10(9):4352-89. doi: 10.3390/ijerph10094352.
9
Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature.叶酸代谢途径中的遗传变异与神经管缺陷风险：已发表文献的荟萃分析。
PLoS One. 2013 Apr 4;8(4):e59570. doi: 10.1371/journal.pone.0059570. Print 2013.
10
Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.亚甲基四氢叶酸脱氢酶1958G>A多态性与神经管缺陷风险的评估
J Hum Genet. 2006;51(2):98-103. doi: 10.1007/s10038-005-0329-6. Epub 2005 Nov 29.