(2005) MTHFR C677T gene mutation as a risk factor for arterial stroke: a hospital based study . Eur J Neurol 12 : 40–44Alluri RV, Mohan V, Komandur S, Chawda K, Chaudhuri JR, Hasan Q. MTHFR C677T gene mutation as a risk factor for arterial stroke: A hospital based study. Eur...
A common mutation (C677T), which results in high homocysteine and low plasma folate levels, has been associated with a thermolabile form of the MTHFR enzyme, therefore being a risk factor for cardiovascular diseases and neural tube defects (NTD) in the homozygous form (Frosst, 1995). Another...
We found that both the heterozygous CT (adjusted OR = 0.78, 95% CI: 0.67–0.92) and the homozygous TT genotypes (adjusted OR = 0.68, 95% CI: 0.55–0.83) of c.677C>T were associated with a significantly decreased risk of PCa compared with homozygous wild-type CC genotype, ...
本研究中,我们以MTHFR基因的77T位点为研究对 象,建立了一种基于错配杂交及酶联免疫法检测的突变分 析新方法.首先用5端标记有生物素的引物扩增一段长 度为ll5bp的包含有C677T位点的DNA片段,针对 C677T位点合成两条分别与野生型及突变型序列完全互 补的邑标记有地高辛的寡核苷酸探针,将两条探针分别与 PCR产物...
中国汉族人群中CC型频率为25.9%，CT型频率为44.9%，TT型频率为29.2%3，对8 篇文献中M THFR 基因677位点C→T和1298位点A→C的Meta 分析结果表明,MTHFR 基因C677T与生精功能下降显著相关(OR = 1. 39, 95%C I: 1. 1522. 69, P = 0. 000 6) 。通过对2001至2009年共24篇男性不育相关文献中...
The MTHFR C677T (rs1801133) polymorphism is a missense mutation that causes the substitution of alanine to valine in 222th and 2 63th positions of the amino acid sequence of methylenetetrahydrofolate reductase (NADPH) which results in functional loss [1]. Homozygous TT genotype carriers...
Cláudia PMS Oliveira1*, Maria TC Muniz3, Filipe Silva3, Leila MMB Pereira2,4 and Flair J Carrilho1 Abstract Background/Aim: Hyperhomocysteinemia due to Methylenetetrahydrofolate Reductase (MTHFR) gene, in particular the C677T (Ala222Val) polymorphism were recently associated to steatosis and ...
However, the serum levels of vitamin B2 and B12 and the MTHFR C677T genotypes interact in ways which has a different effect on the EPL and ESCC risks. For the homozygous wild genotype CC subjects who have normal activity of MTHFR, high serum levels of vitamin B2 and B12 were significantly...
The assay analyzes the C-to-T mutation occurring at nucleotide 677 of the gene MTHFR (Methylen-tetra-hydro-pholate reductase) involved in the re-methylation of homocysteine to methionine. This mutation leads to decreased enzymatic activity, with increased plasmatic levels of homocysteine...
The average frequency of the MTHFR 677T allele was 17.73 % in infertile men as compared to 13.59 % in controls. The statistical difference was significant. Disease risk was found 2.27-folds increased in patients who were carrying T allele. We found an association of C677T polymorphism with ...