Direct detection of MTHFR 677C>T (c.665C>T / p.Ala222Val) polymorphism.
The MTHFR 677 polymorphism produces a more thermolabile form of the enzyme which, in certain situations, may result in elevated plasma homocysteine levels. It is a common polymorphism which is only relevant in the homozygous T/T form, which itself is found in ~10% of the 'normal caucasian population'. It is not generally considered a significant thrombotic risk factor but may explain mildly increased homocysteine levels. In combination with the MTHFR 1298 polymorphism it may be associated with an increased risk of recurrent pregnancy loss.
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