attomol« MTHFR 1298A>C Realtime LT

REF 1172

40 reactions

REF 1229

160 reactions

Intended purpose

The assay attomol® MTHFR 1298A>C Realtime LT 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 real-time PCR assay based on a LoopTag probe, which is evaluated by a melting curve analysis. The sample material has to be genomic DNA prepared from EDTA or citrate blood.

Field of application

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].

Kit content
  • Oligomix MTHFR 1298A>C LT
  • instructions for use

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

Short informations
DNA from blood
LightCycler« 1.x
LightCycler« 2.0
LightCycler« 480
ca. 1,5 h
40 reactions
160 reactions

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