attomol® MTHFR 677C>T Quicktype

REF 1014

40 reactions

Intended purpose

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.

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, 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.

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

You can find more informations about Quicktype-Technology here.

Short informations
DNA from blood
Thermal cycler
Gel or capillariy electrophoresis system
3-4 h
40 reactions

The Instructions for use and the Material safety data sheet can be accessed via the login area. This area is conserved for Attomol customers. Please log in with your customer number and the corresponding password. For further informations please contact us directly.