Methylenetetrahydrofolate reductase gene polymorphism and serum lipid levels and coronary heart disease.doc
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Methylenetetrahydrofolate reductase gene polymorphism and serum lipid levels and coronary heart disease
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Methylenetetrahydrofolate reductase gene polymorphism and serum lipid levels and coronary heart disease
[Abstract] methylenetetrahydrofolate reductase (MTHFR) is a folate and homocysteine #8203;#8203;(Hcy) metabolism in one of the key enzyme. It is in the folate metabolism, DNA methylation and DNA synthesis plays an important role. MTHFR gene mutation causing heat resistance and enzyme activity decreased, resulting in lower folate levels, plasma Hcy concentration and DNA hypomethylation, resulting in a series of pathological changes, caused by a variety of diseases. MTHFR mutations in a variety of types, this paper MTHFR C677T polymorphism and blood lipid levels and coronary heart disease reviewed in the paper.
[Keywords:] methylenetetrahydrofolate reductase; gene polymorphism; lipid; coronary heart disease
Methylenetetrahydrofolate reductase (MTHFR) is a folate and homocysteine #8203;#8203;(Hcy) metabolism is a key enzyme. Its main function is to catalyze biochemical Reduced enzyme nicotinamide adenine nucleotide phosphate (NADPH) mediated guidance from the 5,10 - methylenetetrahydrofolate to 5 - methylenetetrahydrofolate reduction reaction .5 - methylenetetrahydrofolate tissue and serum folic acid is the main form of participation in a variety of important biochemical reactions in vivo. Goyette, etc. for the first time since 1994 the human MTHFR gene has been successfully cloned and positioning, MTHFR gene and its polymorphism has aroused extensive attention. MTHFR gene has been found that there are several mutations, this paper, MTHFR C677T gene polymorphism and blood lipid levels and coronary heart disease in progress.
1 MTHFR gene structure and biochemical characteristics
1.1 MTHFR gene structure of the human MTHFR gene is located on chromosome 1p36.3, clone full-length 17kb, contains 11 exons and 10 introns, the length of exons were 99 ~ 252bp, respectively, the length of intron for the 192 ~ 981bp, its cDNA sequence
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