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采用ＰＣＲ－ ＲＦＬＰ技术，检测了６２ 例动脉粥样硬化性脑梗塞患者和７９ 名对照者的Ｃ６７７Ｔ 突变的基因型。结果发现， ＭＴＨＦＲ基因Ｃ６７７Ｔ 突变型等位基因（Ｖ）频率在实验组和对照组中，有显著性差异（χ２＝ ４．４１，Ｐ＜ ０．０５）；三种基因型频率在两组人群中均无显著性差异。基因型频率的相对风险分析，ＡＶ基因型比ＡＡ 基因型患脑梗塞风险高１．７６ 倍；ＶＶ 基因型比ＡＡ 基因型患脑梗塞风险高３．２５ 倍。结果表明， ＭＴＨＦＲ 基因Ｃ６７７Ｔ 突变型等位基因与动脉粥样硬化性脑梗塞有一定的关联，突变基因型增加了动脉粥样硬化脑梗塞的发病风险。
The genotypes of C677T in 62 patients with atherosclerotic cerebral infarction and 79 controls were tested by PCR-RFLP. The frequency of C677T mutant allele (M) in MTHFR gene was significantly different between experimental group and control group (χ2 = 4.41, P <0.05). The frequencies of three genotypes in two groups In no significant difference. The relative risk of genotype frequency analysis showed that AV genotype had a 1.76-fold higher risk of cerebral infarction than AA genotype. VV genotype had 3.25 times higher risk of cerebral infarction than AA genotype. The results showed that MTHFR gene C677T mutant allele and atherosclerotic cerebral infarction have a certain relationship, the mutant genotype increased the risk of atherosclerosis cerebral infarction.