Detection of MTRR 66A-->G polymorphism using the real-time polymerase chain reaction machine LightCycler for determination of composition of allele after restriction cleavage.

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Tvedegaard KC, Rudiger NS, Pedersen BN, Moller J

Detection of MTRR 66A-->G polymorphism using the real-time polymerase chain reaction machine LightCycler for determination of composition of allele after restriction cleavage.

Scand J Clin Lab Invest. 2006;66(8):685-93.

PubMed ID
17101561 [ View in PubMed
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Abstract

The MTRR gene codes for methionine synthase reductase, one of the enzymes involved in the conversion of homocysteine to methionine. This conversion influences the overall level of total plasma homocysteine (tHcy) and mutations, which reduces the enzyme activity and results in an increased concentration of tHcy. A high homocysteine level is a well-documented independent risk factor for cardiovascular disease. A polymorphism in the gene for methionine synthase reductase (MTRR 66 A>G) has been shown to be associated with the risk of giving birth to a child with Down's syndrome, and the risk of having a foetus with neural tube defects. We have established a method for analysing MTRR 66A>G on DNA from dried blood spots using melting temperature analysis. The DNA was extracted from dried blood spots using a fast procedure by boiling only.

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Drug Targets
DrugTargetKindOrganismPharmacological ActionActions
MethionineMethionine synthase reductaseProteinHumans
Unknown
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