الفهرس 
Title : Role of mthfr gene polymorphism in non syndromic cleft LIP/palate
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Abstract
Introduction: Cleft lip and palate is one of the most common congenital conditions affecting the face and cranial bones. Methylenetetrahydrofolate reductase (MTHFR) is a gene encoding a key enzyme in folate-dependent metabolism of homocysteine. C677T and A1298C are two common polymorphisms localized in the MTHFR gene. Methods: This case control study included forty patients and their mothers. They were referred from El Kasr Al Eini Hospital and clinic of children with special needs, National Research Center during the period from September 2012 through March 2014 (31 males and 9 females). Both exon (4) at nucleotide 677 and exon (7) at nucleotide 1298 of the human MTHFR gene were amplified to identify the mutation. Results: Homocysteine was significantly higher among children and mothers of cases group than among children and mothers of control group. Serum folate was lower among children and mothers of cases group than among children and mothers of control group, but this was significant only in mothers measures. Child mutant C677T and A1298C genotypes were significantly less frequent among case group than among control group (protective). Conclusion: An association was seen between both C677T and A1298C mutations and cleft lip/palate anomalies in our Egyptian sample. Moreover, it seems to be a stronger relationship between these mutations and these anomalies in other countries. Enrollment of more families may be helpful in future studies and screening programs