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• W2047038264 abstract "Aim:  This study aimed at evaluation of  MTHFR  677C/T and 1298A/C polymorphisms in  MTHFR  gene as maternal risk factors in conotruncal heart defects (CTDs). Material and Methods:  Thirty cases with CTDs and their mothers and thirty control children and their mothers were studied. Medical and nutritional histories for all mothers were taken with emphasis on folate intake. The mutations in  MTHFR  gene are a C to T substitution at base pair 677 and a A to C at base pair1298 were investigated by polymerase-chain reaction, followed by restriction enzyme digestion and detection by electrophoresis. Results:  Folic acid intake was below the recommended daily allowance in case mothers compared to control mothers. No significant difference between patients and control group or their mothers regarding  MTHFR  gene polymorphisms at exon 4. Significant difference between case and control groups and between their mothers regarding  MTHFR  gene polymorphisms at exon 7. Homozygous genotype frequencies of  MTHFR  at position 1298 was significantly higher in cases and their mothers with an odds ratio 56 (95% confidence interval 10.3-303.7). Conclusion:  Egyptian population may have high incidence of  MTHFR  polymorphism at exon 7 rather than at exon 4. Preconception folate intake might decrease  MTHFR  polymorphism at exon 7 and decrease risk of CTD." @default.
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• W2047038264 date "2012-03-01" @default.
• W2047038264 modified "2023-09-27" @default.
• W2047038264 title "Genetic Variants in the Methylenetetrahydrofolate Reductase Gene in Egyptian Children with Conotruncal Heart Defects and their Mothers" @default.
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• W2047038264 doi "https://doi.org/10.3889/mjms.1857-5773.2012.0222" @default.
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