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  • Title: Analysis of thiopurine S-methyltransferase phenotype-genotype in a Tunisian population with Crohn's disease.
    Author: Ben Salah L, Belkhiria el Haj Amor M, Chbili C, Khlifi S, Fathallah N, Bougmiza I, Ben Jazia E, Houdret N, Ben Salem C, Saguem S.
    Journal: Eur J Drug Metab Pharmacokinet; 2013 Dec; 38(4):241-4. PubMed ID: 23553048.
    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.
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