Analysis of the MTHFR (methylenetetrahydrofolate reductase) 677 C>T and 1298 A>C polymorphisms in BCR-ABL -negative myeloproliferative neoplasms
✍ Scribed by Trifa, A. P.; Cucuianu, A.; Popp, R. A.; Costache, R. M.; Coadă, C. A.; Sarca, A. D.; Urian, L. G.; Dima, D.; Petrov, L.; Farcasˏ, M. F.; Militaru, M. S.; Pop, I. V.
- Book ID
- 119829240
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 79 KB
- Volume
- 35
- Category
- Article
- ISSN
- 1751-5521
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Methylenetetrahydrofolate reductase (MTHFR) is involved in the one-carbon cycle, which is of importance for nucleotide synthesis and methylation of DNA, membranes, proteins and lipids. The MTHFR gene includes two common polymorphisms (rs1801133 or C677T; rs1801131 or A1298C) which both alter enzyme
The polymorphic mutation C677T in the gene of MTHFR is considered a risk mutation for spina bifida and vascular disease. Another common mutation on the MTHFR gene, A1298C, has also been described as another risk mutation. We studied the frequencies of these two mutations on DNA samples from healthy