Aims and objectives: To determine which among the two MTHFR gene polymorphisms viz , C677T and A1298C has greater contribution to non syndromic cleft palate and lip (nsCL/P). Materials and methods: The study group consisted of the DNA samples of 20 patients with nsCL/P and 20 unrelated controls. DNA sample was subjected to Polymerase Chain Reaction and products are digested with restriction enzymes. The digested products were subjected to electrophoresis to ascertain the presence of MTHFR gene variants (A1298C AND C677T) in the samples. Results: The cleft cases were evaluated for having polymorphism in the MTHFR C677T gene for 3 genetic variants namely C/C (homozygous wild type), T/T (homozygous mutant) and C/T (heterozygous mutant).The odds ratio for T/T variant of C677T was 3.3 and for the C/T variant was 2.3, indicating that presence of both T/T variant and C/T variant of C677T was associated with presence of nsCL/P. For the polymorphism in the MTHFR A1298C gene namely A/A (homozygous wild type), C/C (homozygous mutant) and A/C (heterozygous mutant).The odds ratio was 1.5 for the C/C variant and 2.1 for the A/C variant indicating that both the mutated variants of A1298C gene were associated with nsCL/P. Conclusion: Both the polymorphisms of the MTHFR gene namely MTHFR C677T and MTHFR A1298C may be implicated in the etiopathogenesis of Non Syndromic Cleft Lip/Palate in our population, with the mutations in the MTHFR C677T gene showing a stronger association with nsCL/P.
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