A Study On The Relationship Between Nonsyndromic Cleft Lip With Or Without Cleft Palate(NSCL/P) And Genetic Polymorphisms Of MTHFR C677T And A1298C

with or without cleft palate (NSCL/P) and genetic polymorphisms of MTHFR C677T and A1298CObjective To explore the relationship between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene C677T and A1298C in China population. Methods Genomic DNA was isolated from peripheral lymphocytes of 76 patients with NSCL/P and 60 controls subject. MTHFR genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism techniques (PCR-RFLP). Results To MTHFR C677T, 48 heterozygous parents with an affected child were analysed through case– parental control study, from which transmitted disequilibrium test (TDT) was calculated ,χ2= 0.02,P>0.05;The genotype frequency and allele frenquency among 76 NSCL/P cases and 60 controls were analysed through case-control study,χ2= 9.91,P<0.05; C allele frequency was 0.44 and T allele frequency was 0.56 in the unilateral cleft lip(χ2=8.39,P<0.05), C allele frequency was 0.51 and T allele frequency was 0.49 in the unilateral cleft lip with cleft palate (χ2=5.23,P<0.05);There was no statistically significant between the case with family history and the case without family history(χ2= 0.003,P>0.05). To MTHFR A1298C, 27 heterozygous parents with an affected child were analysed through case-parental control study, from which transmitted disequilibrium test (TDT) was calculated,χ2= 4.00,P<0.05; The genotype frequency and allele frenquency among 76 A study on the relationship between nonsyndromic cleft lippalate (χ2=4.38,P<0.05);There was no statistically significant between the case with family history and the case without family history (χ2= 2.68 , P>0.05 ) . Conclusion The genetic polymorphism of MTHFR C677T is associated with the development of NSCL/P in the China population, and the genetic polymorphism of MTHFR A1298C is a risk factor of NSCL/P in the China population. NSCL/P cases and 60 controls were analysed through case-control study,χ2= 4.42, P<0.05. A allele frequency was 0.76 and C allele frequency was 0.24 in the unilateral cleft lip with cleft...