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Methylenetetrahydrofolate Reductase(MTHFR) Gene Expression in Kawasaki Disease

Korean Journal of Pediatrics 2004;47(7):774-778.
Published online July 15, 2004.
Methylenetetrahydrofolate Reductase(MTHFR) Gene Expression in Kawasaki Disease
Hye Ryung Choi, Ae Ra Joo, Hae Soon Kim, Sejung Sohn, Young Mi Hong
Department of Pediatrics, College of Medicine, Ewha Womans University, Seoul, Korea
가와사끼병에서 MTHFR 유전자의 발현양상
최혜령, 조애라, 김혜순, 손세정, 홍영미
이화여자대학교 의과대학 소아과학교실
Hae Soon Kim, Email: hyesk@ewha.ac.kr
: Hyperhomocysteinemia is known as an independent risk factor for cardiovascular diseases such as atherosclesosis and myocardiac infarct. A common mutation in 5, 10-methylenetetrahydrofolate reductase(MTHFR) gene results in a valine for alanine substitution, which makes enzyme thermolabile and reduces enzymal activity. We examined the relation of MTHFR genetic mutation and Kawasaki disease.
: We extracted DNA from the peripheral blood of Kawasaki disease patients who were treated in Ewha University Mokdong Hospital between January 2000 and June 2003, and normal children. We genotyped for the polymorphism by using PCR of known alleic varients and digested them with Hinfl restriction enzyme. Products were visualized after electrophoresis in 2.5% agarose gel.
: The respective prevalence of the homozygous and heterozygous genotypes(CC genotype, CT genotype, TT genotype) was 33.3%, 38.9%, and 27.8% in the control group and 31.3%, 47.9%, and 20.8% in the Kawasaki disease group(P>0.05).
: The mutation of MTHFR gene shows no relation to development of coronary artery complications in Kawasaki disease.
Key Words: Methylenetetrahydrofolate reductase, Mucocutaneous lymph node syndrome(Kawasaki disease)

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