ABSTRACT
<p><b>OBJECTIVE</b>To explore the relationship between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and genetic polymorphism of MTHFR C677T and A1298C in Chinese population.</p><p><b>METHODS</b>Case-control study design was employed. MTHFR genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism techniques (PCR-RFLP).</p><p><b>RESULTS</b>As to MTHFR C677T, 48 heterozygous parents with an affected child were analyzed through case-parental control study using TDT (chi2 = 0. 02, P > 0.05). The genotype frequency and allele frequency of 76 NSCL/P cases and 60 controls were analyzed through case-control study (chi2 = 9.91, P < 0.05). As to MTHFR A1298C, 27 heterozygous parents with an affected child were analyzed through case-parental control study using TDT (chi2 = 4.00, P < 0.05). The genotype frequency and allele frequency of 76 NSCL/P cases and 60 controls were analyzed through case-control study (chi2 = 4.42, P < 0.05).</p><p><b>CONCLUSIONS</b>The genetic polymorphism of MTHFR C677T is associated with the development of NSCL/P, and the genetic polymorphism of MTHFR A1298C is a risk factor for NSCL/P in the Chinese population.</p>