attomol« MTHFR 677C>T Realtime TM 2

REF 1253

48 reactions

REF 1254

96 reactions

Intended purpose

The assay attomol« MTHFR 677C>T Realtime TM 2 is used for the supportive diagnosis of thrombophilia. This test can be used to determine the transition 677C>T (rs1801133) in the human methylenetetrahydrofolate reductase (MTHFR) gene. It is a manual, qualitative, on hydrolysis probes based real-time PCR assay designed for various real-time PCR cyclers. The sample material has to be genomic DNA prepared from EDTA or citrate blood.

Field of application

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.

Kit content
  • PCR-H2O
  • Premix MTHFR 677C>T TM 2
  • Hot Start Taq DNA-Polymerase (2 U/Ál)
  • instructions for use

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

Short informations
DNA from blood
LightCycler« 480
Rotor-Gene« Q
peqSTAR 96Q
ca. 1,5 h
48 reactions
96 reactions

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