attomol^® MTHFR 1298A>C Quicktype

The assay attomol^® MTHFR 1298A>C Quicktype is used for the supportive diagnosis of thrombophilia. This test  can  be  used  to  determine  the  transversion  1298A>C  (rs1801131)  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 materialhas to be genomic DNA prepared from EDTA or citrate blood.

Enhanced  homocysteine  plasma  concentration  is  a  risk factor  for  coronary  heart  disease,  thrombosis  and arteriosclerosis. Accumulation of homocysteine in the plasma may be caused by the mutation MTHFR 677C>T resulting in a thermo labile enzyme with reduced activity [Huisman, M.V., Rosendaal, F., 1999, Curr.Opin.Hematol. 6:291-297]. In  the  context  of  an  increased  homocysteine  level,  another  polymorphism  of  the  MTHFR  gene (MTHFR 1298A>C) is discussed. If this mutation occurs alone, it appears to have no effect on the homocystein plasma  concentration.  However,  it  has  been  shown  that  patients  who  are  heterozygous  for  both polymorphism have decreased MTHFR enzyme activity by 50 %, increased homocysteine concentrations and reduced folate levels [Födinger, M. et al., 2001, Kidney Int.Suppl. 78:238-242; Weisberg, I.S. et al., 2001, Atherosclerosis 156:409-415]. In consequence, especially in patients who carriers the MTHFR 677T allele, it is useful to determine the MTHFR 1298 genotype in the diagnosis of cardiovascular diseases, as well as othergenetic risk factors.In addition, the presence of both mutations in same patient is described as a risk factor for defects of the neural tube [Födinger, M. et al., 1999, J.Nephrol. 13:20-33]. The mutation MTHFR 1298A>C shows a wide distribution in the Caucasian population. The heterozygous form is carried by 40 % and the homozygous form by 4 % of all individuals [Peng, F. et al., 2001, Int.J.Mol.Med. 8:509-511].

• PCR-H₂O
• PCR-buffer I
• Primer MTHFR 1298A>C
• instructions for use

You can find more informations about Quicktype-Technology here.