ABSTRACT
Objective:To investigate the association of the rsl801133 polymorphisms of the methylenetetrahydrofolate reductase (MTHFR)gene and rs2236225 polymorphisms of the methylenetetrahydrofolate dehydrogenase(MTHFD1)gene with non-syndromic cleft lip with or without cleft palate (NSCL/P)in Chinese population of Shanxi Province.Methods:The rsl801133 polymorphism of MTHFR gene and rs2236225 polymorphism of MTHFD1 gene were examined by PCR-RFLP in 265 patients with NSCL/P and 276 healthy controls.Data were statistically analysed.Results:The genotypic distribution of rsl801133 and rs2236225 was not deviated from the Hardy-Weinberg equilibrium.There was no significant difference in allele frequencies of rsl801133 and rs2236225 variants between patients with NSCL/P and healthy individuals(P <0.05).Conclusion:The polymorphism of MTHFR gene and MTHFD1 gene was not associated with NSCL/P in Chinese population of Shanxi Province.