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首页> 外文期刊>The Korean Journal of Genetics >Genetic polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) in Healthy Korean
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Genetic polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) in Healthy Korean

机译：健康韩国人中5,10-亚甲基四氢叶酸还原酶（MTHFR C677T和A1298C）的遗传多态性

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Genetic mutation in the MTHFR gene (C677T and A1298C) have been shown to result in reduced MTHFR activity. Elevated plasma homocysteine levels can result from defective remethylation of methylenetetrahydrofolate reductase (MTHFR). Hyperhomocysteinemia has recently been known to be an important risk factor for cerebrovascular disease. We have studied the genotype frequencies of MTHFR (C677T and A1298C) gene in 254 healthy Korean subjects without vascular diseases and cancers, aged 20 to 90 years. The frequency of subjects homozygous for the 677TT genotype was 13.4 percent, and that of those homozygous for the 1298CC genotype was 2.0 percent. The frequency of individuals heterozygous for both mutations (677CT/1298AC genotype) was 11.9 percent. The highest and lowest frequency of combined MTHFR genotype was 677CT/1298AA (39.1 percent) and 677CC/1298CC (1.6 percent), respectively. Moreover, no individuals had the three combined genotypes such as 677CT/1298CC, 677TT/1298AC and 677TT/1298CC. The frequency of MTHFR 677T allele in Korean was 0.39, which is similar to Japanese (0.41), Chinese (0.40 and 0.41), higher than Caucasian (0.27 - 0.37). The frequency of MTHFR 1298C allele in Korean was 0.12, which is the lowest among the populations such as Japanese (0.19), Chinese (0.17 and 0.19) and Caucasian (0.29 - 0.36). And the frequency of combined normal genotype (677CC/1298AA) in Korean was 24.5 percent, which is higher than Japanese (15.2 percent), Chinese (16.4 percent and 18.7 percent) and Caucacian(10.8 - 18.4 percent), but lower than that of South African (36.8 percent). The MTHFR C677T and A1298C mutation data should be useful for studying the differences of world populations, and significance of the vascular diseases as well as thrombotic diseases.
机译：MTHFR基因（C677T和A1298C）中的基因突变已显示导致MTHFR活性降低。血浆同型半胱氨酸水平升高可能是由亚甲基四氢叶酸还原酶（MTHFR）的甲基化缺陷引起的。高同型半胱氨酸血症最近被认为是脑血管疾病的重要危险因素。我们研究了年龄在20至90岁之间的254名健康的韩国无血管疾病和癌症的健康受试者的MTHFR（C677T和A1298C）基因的基因型频率。 677TT基因型纯合子的频率为13.4％，而1298CC基因型纯合子的频率为2.0％。两种突变（677CT / 1298AC基因型）的杂合子个体频率为11.9％。组合的MTHFR基因型的最高频率和最低频率分别为677CT / 1298AA（39.1％）和677CC / 1298CC（1.6％）。而且，没有个体具有三种组合基因型，例如677CT / 1298CC，677TT / 1298AC和677TT / 1298CC。韩国人的MTHFR 677T等位基因频率为0.39，与日本人（0.41），中国人（0.40和0.41）相似，高于白种人（0.27-0.37）。韩国人的MTHFR 1298C等位基因频率为0.12，在日本人（0.19），中国人（0.17和0.19）和白种人（0.29-0.36）等人群中是最低的。韩国人的正常基因型组合（677CC / 1298AA）的发生率为24.5％，高于日本人（15.2％），中国人（16.4％和18.7％）和高加索人（10.8-18.4％），但低于南非（36.8％）。 MTHFR C677T和A1298C突变数据对于研究世界人口的差异以及血管疾病和血栓性疾病的意义将是有用的。

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