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- W4283393384 abstract "Background: The correlation between imbalances in homocysteine metabolism and leukaemia is a matter of debate. While the effects of polymorphisms of key homocysteine metabolism enzymes on homocysteinemia are confirmed, their direct causality in the genesis of leukaemias or their role as disease markers (diagnostic or prognostic) remains controversial. It has been reported in several studies that the C677T and A1298C polymorphisms of the MTHFR may play a role in the pathophysiology of acute leukaemias and various other types of signalopathies such as cancers. Homocysteine could indeed modulate the expression of certain tumour suppressor genes and induce epigenetic alterations. Aims: In this work, the aim was to identify this correlation using a molecular study of MTHFR polymorphisms in a Tunisian cohort with acute lymphoblastic leukemia. Methods: The molecular study involved a cohort of 41 Tunisian children with acute lymphoblastic leukemia. Genomic DNA was extracted from blood samples. Amplification of the regions of interest of the MTHFR gene at exons 4 and 7 was performed by PCR using primers designed in silico. Genotyping of the 677C>T and 1298 A>C polymorphisms was performed by PCR-RFLP of the amplicons using two restriction enzymes HinfI and MboII. Results: MTHFR polymorphisms were detected in 39% of the children. The frequency of polymorphic alleles corresponded to 15.85% for the A1298C polymorphism and 4.87% for the C677T polymorphism. In fact, The C677T and A1298C MTHFR polymorphisms were detected in respectively 4 and 11 patients as heterozygous. Only one patient harbored homozygous A1298C MTHFR polymorphism. Only two cases were heterozygotes for both polymorphisms. Summary/Conclusion: Imbalances in MTHFR homocysteine metabolism associated with the polymorphisms do not appear to be a risk factor for ALL in the study cohort." @default.
- W4283393384 created "2022-06-25" @default.
- W4283393384 creator A5081721358 @default.
- W4283393384 date "2022-06-01" @default.
- W4283393384 modified "2023-09-26" @default.
- W4283393384 title "P311: IMBALANCES IN HOMOCYSTEINE METABOLISM AND LEUKEMIA" @default.
- W4283393384 doi "https://doi.org/10.1097/01.hs9.0000844136.30377.44" @default.
- W4283393384 hasPublicationYear "2022" @default.
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