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Analysis of thiopurine S-methyltransferase phenotype-genotype in a Tunisian population with Crohn's disease.
- Source :
-
European journal of drug metabolism and pharmacokinetics [Eur J Drug Metab Pharmacokinet] 2013 Dec; Vol. 38 (4), pp. 241-4. Date of Electronic Publication: 2013 Apr 04. - Publication Year :
- 2013
-
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.
- Subjects :
- Alleles
Azathioprine pharmacokinetics
Crohn Disease enzymology
DNA biosynthesis
DNA genetics
Erythrocytes enzymology
Female
Gene Frequency
Genotype
Humans
Immunosuppressive Agents pharmacokinetics
Male
Phenotype
Tunisia epidemiology
Crohn Disease epidemiology
Crohn Disease genetics
Methyltransferases genetics
Methyltransferases metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 0378-7966
- Volume :
- 38
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- European journal of drug metabolism and pharmacokinetics
- Publication Type :
- Academic Journal
- Accession number :
- 23553048
- Full Text :
- https://doi.org/10.1007/s13318-013-0127-z