## Abstract ## BACKGROUND: Maternal periconceptional supplementation of folate reduces the incidence of neonatal Neural Tube Defects, indicating that changes in folate metabolism play a role in formation of NTDs. The mutations on two genes involved in folate metabolism, the __C677__ of the __MTHFR
Heterozygote advantage of the MTHFR gene in patients with neural-tube defect and their relatives
β Scribed by LR Weitkamp; DC Tackels; AGW Hunter; LB Holmes; CE Schwartz
- Book ID
- 117288760
- Publisher
- The Lancet
- Year
- 1998
- Tongue
- English
- Weight
- 55 KB
- Volume
- 351
- Category
- Article
- ISSN
- 0140-6736
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## Abstract ## BACKGROUND: Methylenetetrahydrofolate reductase (__MTHFR__) of the folate metabolism pathway is a candidate gene for neural tube defects (NTDs). Frequency of the second common polymorphism, A1298C, in the __MTHFR__ gene is not well known in Mexico. Conflicting results exist regardin
A number of studies have demonstrated that the common polymorphism 677CβT in the gene encoding 5, 10-methylenetetrahydrofolate reductase (MTHFR) leads to a thermolabile variant with decreased enzyme activity and to mildly elevated plasma homocysteine. 677TT homozygosity was shown to be more frequent