title: Analysis of thiopurine S-methyltransferase phenotype-genotype in a Tunisian population with Crohn's disease.
abstract: This study was conducted to investigate the thiopurine S-methyltransferase TPMT activity distribution and gene mutations in Tunisian population with positive diagnostic for Crohn's disease. TPMT activity was measured in Tunisian population (n = 88) by a high performance liquid chromatography assay. Polymerase chain reaction-based methods were used to determine the frequency of TPMT mutant alleles TPMT*2, TPMT*3A, TPMT*3B and TPMT*3C. TPMT activity was normally distributed, ranging from 4.58 to 35.27 nmol/(h ml) RBC with a mean of 18.67 ± 7.10 nmol/(h ml) RBC. Seven TPMT*3A heterozygotes and one TPMT*3C homozygote were found in 88 patients, with allele frequencies of 0.039 and 1.13, respectively. TPMT*3A and the TPMT*3C, which cause the largest decrease in enzyme activity, were both variant alleles detected in the Tunisian population.
authors.affiliation: Metabolic Biophysics and Applied Toxicology Laboratory, Department of Biophysics, Faculty of Medicine of Sousse, Sousse University, Avenue Mohamed Karoui, 4002, Sousse, Tunisia, bs_lynda@yahoo.fr.
authors.forename: Lynda
authors.initials: L
authors.lastname: Ben Salah
authors.forename: Mouna
authors.initials: M
authors.lastname: Belkhiria el Haj Amor
authors.forename: Chahra
authors.initials: C
authors.lastname: Chbili
authors.forename: Saida
authors.initials: S
authors.lastname: Khlifi
authors.forename: Neila
authors.initials: N
authors.lastname: Fathallah
authors.forename: Iheb
authors.initials: I
authors.lastname: Bougmiza
authors.forename: Elhem
authors.initials: E
authors.lastname: Ben Jazia
authors.forename: Nicole
authors.initials: N
authors.lastname: Houdret
authors.forename: Chaker
authors.initials: C
authors.lastname: Ben Salem
authors.forename: Saad
authors.initials: S
authors.lastname: Saguem
mesh_terms: D000483:Alleles; D001379:Azathioprine / Q000493:pharmacokinetics; D003424:Crohn Disease / Q000201:enzymology / Q000453:epidemiology* / Q000235:genetics*; D004247:DNA / Q000096:biosynthesis / Q000235:genetics; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007166:Immunosuppressive Agents / Q000493:pharmacokinetics; D008297:Male; D008780:Methyltransferases / Q000235:genetics* / Q000378:metabolism*; D010641:Phenotype; D014416:Tunisia / Q000453:epidemiology
chemical_list: D007166:Immunosuppressive Agents; D004247:DNA; D008780:Methyltransferases; C022745:thiopurine methyltransferase; D001379:Azathioprine
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