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导致缬氨酸取代丙氨酸的亚甲基四氢叶酸还原酶 ( MTHFR)基因中一个常见的热不稳定性遗传变异 ( 677C→ T)作为血管病的风险因子已有报道。这种变异与降低的酶活性相关 ,损害了同型半胱氨酸至蛋氨酸的再甲基化 ,继而产生高同型半胱氨酸血症。据报道 C677T等位基因与 -型糖尿病?
A common thermolabile genetic variation (677C → T) in the methylenetetrahydrofolate reductase (MTHFR) gene that leads to valine-substituted alanine has been reported as a risk factor for vascular disease. This variation is associated with decreased enzymatic activity, compromising the remethylation of homocysteine to methionine, which in turn produces hyperhomocysteinemia. It is reported that C677T allele and - type diabetes?