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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
agricultural and biological sciences
Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population
Comptes Rendus - Biologies, Volume 330, No. 10, Year 2007
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Description
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 + 1 g > 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). © 2007 Académie des sciences.
Authors & Co-Authors
Ben Fredj, Radhia
Tunisia, Sousse
Faculty of Medicine Sousse
Gross, Eva
Germany, Munich
Technische Universität München
Chouchen, Lotfi
Tunisia, Monastir
Vascular Health Faculty of Medicine of Monastir
B'chir, Fatma
Tunisia, Sousse
Faculty of Medicine Sousse
Ben-Ahmed, Slim
Tunisia, Sousse
Hopital Farhat Hached Sousse
Neubauer, Steffi
Germany, Munich
Technische Universität München
Kiechle, Marion Brigitta
Germany, Munich
Technische Universität München
Saguem, Saâd
Tunisia, Sousse
Faculty of Medicine Sousse
Statistics
Citations: 21
Authors: 8
Affiliations: 4
Identifiers
Doi:
10.1016/j.crvi.2007.08.003
ISSN:
16310691
Research Areas
Genetics And Genomics
Study Design
Cross Sectional Study