attomol^® MTHFR 677C>T Realtime LT

The assay attomol^® MTHFR 677C>T Realtime LT is used for the supportive diagnosis of thrombophilia. This test can be used to determine the transition 677C>T (rs1801133) in the human MTHFR gene. It is a manual, qualitative real-time PCR assay based on a LoopTag probe, which is evaluated by a melting curve analysis. The sample material has to be genomic DNA prepared from EDTA or citrate blood.

The methylenetetrahydrofolate reductase (MTHFR) catalyses the reaction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, which functions as the methyl donor for the conversion of homocysteine to methionine. The mutation 677C>T causes production of a thermolabile enzyme with reduced enzymatic activity [Huisman, M. V., Rosendaal, F.; (1999) Thrombophilia. Current Opinion in Hematology 6:291-297]. As a result reduced conversion of homocysteine to methionine leads to an accumulation of homocysteine in the plasma (hyperhomocysteinaemia). Enhanced plasma levels of homocysteine are known to be a risk factor for thrombosis and artherosclerosis, especially if combined with mutations in the blood clotting factors V and II (e.g. prothrombin mutation, Leiden mutation) [Bertina, R.M.; (1998) Current Opinion in Hematology 5:339-342].
The homozygous form of the MTHFR gene mutation 677C>T is carried by 11 % of the European population. The inheritance of more than one genetic risk factor can lead to an early and pronounced manifestation of thrombosis.

• Oligomix MTHR 677C>T LT
• instructions for use

You can find more informations about the Looptag-Technology here.