attomol^® MTHFR 677C>T Quicktype

The assay attomol^® MTHFR 677C>T Quicktype 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 assay using an allel-specific PCR with integrated probe hybridisation. The evaluation takes place by agarose gel electrophoresis, which can be carried out manually or automatically. 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, 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 tobe  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.

• PCR-H₂O
• PCR-buffer I
• primer MTHFR 677C>T
• instructions for use

You can find more informations about Quicktype-Technology here.