attomol^® MTHFR 1298A>C Realtime TM 2

The assay attomol^® MTHFR 1298A>C Realtime TM 2 is used for the supportive diagnosis of thrombophilia. This test can be used to determine the transversion 1298A>C (rs1801131) 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.

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 other genetic 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
• Premix MTHFR 1298A>C TM 2
• Hot Start Taq DNA Polymerase (2 U/µl)
• instructions for use

You can find more informations about the TaqMan^TM-Technology here.