亚甲基四氢叶酸还原酶C677T多态性与非综合征性唇腭裂的关系

目的研究亚甲基四氢叶酸还原酶基因C677T多态性与非综合征性唇腭裂的关系。方法利用聚合酶链反应-限制性片段长度多态性方法（PCR-RFLP），在168例非综合征性唇腭裂患者和192名正常对照中，对MTHFR基因C677T单核苷酸多态性（SNP，rs1801133）进行检测。利用拟合优度卡方检验，分析基因型分布频率是否符合Hardy-Weinberg平衡定律；应用UNPHASED软件包分析多态性位点与非综合征性唇腭裂的相关性。结果MTHFRC677T多态性基因型频率分布符合Hardy-Weinberg平衡；MTHFR C677T等位基因分布在NSCL／P组与对照组之间有显著性差异（P〈0.05），正常组中T等位基因的频率明显高于NSCL／P组。结论MTHFR C677T多态性位点在中国人群中与非综合征性唇腭裂形成的发生相关联。

Association of methylenetetrahydrofolate reductase C677T polymorphisms with non-syndromic cleft lip with or without cleft palate

Objective To investigate the association of methylenetetrahydrofolate reductase polymorphisms with non-syndromic cleft lip with or without cleft palate （NSCL/P） Chinese population. Methods Genotyping of rs1801133 was conducted by PCR-based restriction fragment length polymorphism （RFLP） analysis in both 168 patients and the 192 controls. The X2 goodness-of-fit test was applied to test whether or not the genotypic distributions of rs1801133 would be in Hardy-Weinberg equilibrium. The UNPHASED program was used to perform X2 test for the associations. Results The genotypic distribution of C677T was not deviated from the Hardy-Weinberg equilibrium. The allele frequencies were significantly different between patients with NSCL/P and healthy individuals（P〈0.05）. The frequency of T alleles in the patients was lower than that of C alleles compared with the healthy individuals. Conclusion The polymorphism of MTHFR C677T is associated with NSCL/P Chinese population and may play a role in the occurrence of this disease.