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

K C Tvedegaard, N S Rüdiger, B N Pedersen

Publikation: Bidrag til tidsskriftTidsskriftsartikelForskningpeer review

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.

OriginalsprogEngelsk
TidsskriftScandinavian Journal of Clinical & Laboratory Investigation
Vol/bind66
Udgave nummer8
Sider (fra-til)685-93
Antal sider9
ISSN0036-5513
DOI
StatusUdgivet - 2006
Udgivet eksterntJa

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