Detection of MTRR 66A-->G polymorphism using the real-time polymerase chain reaction machine LightCycler for determination of composition of allele after restriction cleavage.
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.
Tvedegaard
K C
KC
Institute of Public Health, NANEA at Department of Epidemiology, University of Aarhus, Aarhus, Denmark. kct1@stofanet.dk
Rüdiger
N S
NS
Pedersen
B N
BN
Møller
J
J
D000483:Alleles; D004252:DNA Mutational Analysis; D004262:DNA Restriction Enzymes / Q000737:chemistry; D003718:Denmark; D005287:Ferredoxin-NADP Reductase / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D020641:Polymorphism, Single Nucleotide; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000295:instrumentation* / Q000379:methods; D012680:Sensitivity and Specificity
C111241:methionine synthase reductase; D005287:Ferredoxin-NADP Reductase; D004262:DNA Restriction Enzymes