Article
Distribution of alleles of the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in familial spina bifida.
American journal of medical genetics - 22 Dec 1999
Johnson W G, Stenroos E S, Heath S C, Chen Y, Carroll R, McKoy V V, Chatkupt S, Lehner T
Abstract excerpt
Spina bifida cystica (SB) is one of the most common and disabling of birth defects. Folic acid supplementation in mothers during the periconceptional period has been shown to prevent more than 70% of neural tube defects (NTD) including SB. However, the mechanism is unknown. We tested a series of multicase SB families in which 224 individuals were genotyped and a group of 215 unrelated unaffected (external)...
Topics
- Alleles
- Case-Control Studies
- DNA Mutational Analysis
- Female
- Genetic Testing
- Humans
- Linkage Disequilibrium
- Male
- Methylenetetrahydrofolate Reductase (NADPH2)
- Monte Carlo Method
- Oxidoreductases Acting on CH-NH Group Donors
- Pedigree
- Polymorphism, Genetic