广东汉族人群MTHFR基因C677T多态性与NSCL/P易感性的关联研究

Correlation between MTHFR Gene C677T Polymorphisms and the Susceptibility of NSCL/P in Guangdong Population

目的:研究广东地区汉族人群非综合征型唇腭裂(NSCL/P)的发生与其亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性的关联性。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析方法对124例NSCL/P患者和273例健康人群的外周血液进行MTHFR基因C677T基因型检测,比较突变基因分布频率的差异强度。结果:病例组MTHFR基因突变纯合型(677TT)比例及携带T等位基因频率均高于对照组,差异有统计学意义(P<0.05)。结论:广东地区汉族人群NSCL/P的发生与其MTHFR基因C677T多态性相关,等位基因C突变为T可能会增加患NSCL/P的风险。

Objective To study the association between methylenetetrahydrofolate reductase （MTHFR） gene C677T polyrnorphisms and the susceptibility of non-syndromic cleft lip with or without cleft palate （NSCL/P）. Methods The MTHFR gene C677T polymorphisms of 124 parents with NSCL/P and 273 normal controls in Guangdong population were analyzed using polymerase chain reaction-restriction fragment length polyrnorphism （PCR-RFLP） analysis. Results The rates for MTHFR gene mutation 677TT and T allele in case group were higher than which in control group（P 〈 0.05）. Conclusion The MTHFR gene C677T polymorphisms are risk factors in Guangdong population. The T allele plays an important role in the patients of NSCL/P.