Genetic analysis of thiopurine methyltransferase polymorphism in the Jordanian population.
Eur J Clin Pharmacol
; 66(10): 999-1003, 2010 Oct.
Article
en En
| MEDLINE
| ID: mdl-20521035
UNLABELLED: This study provides the first analysis of the TPMT mutant allele frequency in a sample of the Jordanian population and indicates that TPMT*3A is the most common allele in Jordanian subjects. PURPOSE: thiopurine methyltransferase TPMT catalyses the S-methylation of thiopurine drugs such as 6-mercaptopurine, 6-thioguanine, and azathiopurine. Thiopurine methyltransferase (TPMT) polymorphisms are the major determinants of interindividual differences in the severe haematological toxicity of 6-mercaptopurine. Several variants in the TPMT gene have been identified that correlate with a low activity phenotype. Four variant alleles, TPMT*2, TPMT*3A, TPMT*3B and TPMT*3C, are responsible for over 80% of the low or undetectable enzyme activity. The allelic frequency of TPMT variants has been established in many populations. METHODS: In this study, the frequencies of four (TPMT*2, TPMT*3A, TPMT*3B and TPMT*3C) variants were investigated in 169 healthy Jordanian men (18-45 years of age). Single nucleotide polymorphisms (SNPs) were genotyped using the Sequenom MassARRAY technology (Sequenom; San Diego, CA, USA). RESULTS: TPMT*3A and TPMT*3C were the only deficiency alleles detected in the Jordanian population with an allele frequency of 0.59% and 0.30% respectively. The TPMT*3A allele frequency is found to be lower than in the European Caucasian population. CONCLUSION: TPMT*3A and TPMT*3C were the only deficiency alleles detected in the Jordanian population with an allele frequency of 0.59% and 0.30% respectively. The TPMT*3A allele frequency is found to be lower than in the European Caucasian population.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Árabes
/
Polimorfismo de Nucleótido Simple
/
Población Blanca
/
Frecuencia de los Genes
/
Metiltransferasas
Límite:
Adult
/
Humans
/
Male
País/Región como asunto:
Asia
/
Europa
Idioma:
En
Revista:
Eur J Clin Pharmacol
Año:
2010
Tipo del documento:
Article
Pais de publicación:
Alemania