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• W2004164976 abstract "Dihydropyrimidine dehydrogenase enzyme (DPD) deficiency is a pharmacogenetic syndrome leading to severe side-effects in patients receiving therapies containing the anticancer drug 5-fluorouracil (5-FU). The aim of this population study is to evaluate gene variations in the coding region of the dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population. One hundred and six unrelated healthy Tunisian volunteers were genotyped by denaturing HPLC (DHPLC). Twelve variants in the coding region of the DPYD were detected. Allele frequencies of DPYD*5 (A1627G), DPYD*6 (G2194A), DPYD*9A (T85C), A496G, and G1218A were 12.7%, 7.1%, 13.7%, 5.7%, and 0.5%, respectively. The DPYD alleles DPYD*2A (IVS 14+1g>1), DPYD*3 (1897 del C) and DPYD*4 (G1601A) associated with DPD deficiency were absent from the examined subjects. We describe for the first time a new intronic polymorphism IVS 6–29 g>t, found in an allelic frequency of 4.7% in the Tunisian population. Comparing our data with that obtained in Caucasian, Egyptian, Japanese and African–American populations, we found that the Tunisian population resembles Egyptian and Caucasian populations with regard to their allelic frequencies of DPYD polymorphisms. This study describes for the first time the spectrum of DPYD sequence variations in the Tunisian population. To cite this article: R. Ben Fredj et al., C. R. Biologies 330 (2007). Le déficit enzymatique en dihydropyrimidine déhydrogénase est un syndrome pharmacogénétique entraînant de sévères toxicités chez les patients cancéreux traités par le 5-fluorouracile (5-FU). L'objectif de notre étude est de déterminer les variations génétiques touchant le gène de la DPD (DPYD) chez la population tunisienne. L'ADN de 106 volontaires a été analysé par denaturing HPLC (DHPLC). Douze variations génétiques ont été observées dans la région codante de la DPYD. Les fréquences alléliques de DPYD*5 (A1627G), DPYD*6 (G2194A), DPYD*9A (T85C), A496G et G1218A étaient de 12,7%, 7,1%, 13,7%, 5,7% et 0,5 %, respectivement. Les allèles DPYD*2A (IVS 14+1g>1), DPYD*3 (1897 del C) et DPYD*4 (G1601A), causant des déficits en DPD, n'ont pas été observés. On a trouvé un nouveau polymorphisme intronique IVS 6–29 g>t, la fréquence allélique étant de 4,7%. Grâce à la comparaison des fréquences alléliques, on peut conclure que la population tunisienne ressemble à ses homologues égyptienne et caucasienne. Pour citer cet article : R. Ben Fredj et al., C. R. Biologies 330 (2007)." @default.
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• W2004164976 date "2007-10-01" @default.
• W2004164976 modified "2023-10-18" @default.
• W2004164976 title "Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population" @default.
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• W2004164976 doi "https://doi.org/10.1016/j.crvi.2007.08.003" @default.
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