5,10-亚甲基四氢叶酸还原酶基因多态性及补充叶酸与非综合征性唇腭裂的相关性

背景：对于5, 10-亚甲基四氢叶酸还原酶(5, 10-methylene tetrahydrofolate reductase, MTHFR)基因C677T位点多态性与唇腭裂相关性的研究国内外结果不一,未见结合干预因素叶酸影响的相关报道。 目的：探讨河南地区汉族人群MTHFR基因C677T位点多态性及补充叶酸与非综合征性唇腭裂的发病关系。 方法：选取2008-09/2010-03在郑州大学第一附属医院及郑州市第一人民医院整形外科就诊的非综合征性唇腭裂患者110例,采用PCR-RFLP法检测外周血中MTHFR基因C677T位点基因型并与40例健康对照比较频数差异。同时结合母孕期是否补充叶酸进行统计学分析。 结果与结论：病例组和对照组C677T基因型及等位基因频率比较差异均具有显著性意义(P < 0.01),且有家族史的患者TT基因型及T等位基因频率高于无家族史患者(P < 0.05)。对母孕期是否补充叶酸进行比较,发现非综合征性唇腭裂与叶酸摄入呈负相关(χ²=4.304,r=-0.169,P  < 0.05)。结果提示MTHFR基因C677T位点突变与河南汉族人群非综合征性唇腭裂的发生相关,母孕期补充叶酸能降低非综合征性唇腭裂的发病风险。

Correlation between 5, 10-methylene tetrahydrofolate reductase gene polymorphism,folic acid supplementation and non-syndrome cleft lip and palate

BACKGROUND:Results of correlation between 5, 10-methylenetetrahydrofolate reductase (MTHFR) C677T loci gene polymorphism and cleft are differ from China and aboard, and the influence of combined intervention factors folic acid has not reported. OBJECTIVE:To investigate the correlation between MTHFR C677T loci gene polymorphism, folic acid supplementation and non-syndrome cleft lip and palate (NSCL/P) of Han population in Henan Province. METHODS:Totally 110 cases with NSCL/P visited Department of Plastic Surgery, First Affiliated Hospital of Zhengzhou University or Department of Plastic Surgery, Zhengzhou First People’s Hospital from September 2008 to March 2010 were selected. MTHFR C677T loci genes were detected by PCR-RFLP method, the frequency differences were compared with 40 healthy controls. Simultaneously, the statistical analysis was performed combined with whether folic acid was supplemented at female pregnancy. RESULTS AND CONCLUSION:There were significance between the case group and control group in C677T genotype and gene frequency (P < 0.01); in addition, TT genotype and gene frequency of cases with a family history was greater than that without a family history (P < 0.05); comparing those with or without folic acid supplementation during pregnancy, there was a negative correlation between NSCL/P and folic acid supplementation (χ²=4.304, γ=-0.169, P  < 0.05). The results suggest that MTHFR C677T mutation is associated with NSCL/P incidence in Henan Han population, and female pregnancy folic acid supplements can reduce the risk of NSCL/P.