Genetic polymorphism of Thiopurine S-methyltransferase in Argentina

LE LARÓVERE ; R DODELSON DE KREMER; LH LAMBOOY; RA DE ABREU

ROYAL SOC MEDICINE PRESS LTD

Lugar: Londres; Año: 2003 vol. 40 p. 388 - 388

ackground Thiopurine methyltransferase (TPMT) catalyses the S-methylation of 6-thiopurine drugs, which are commonly used in the treatment of autoinmune diseases, leukaemia and organ transplantation. TPMT activity is polymorphic as a result of gene mutations. Ethnic variations in phenotype and genotype have beenidentified in previous population studies, but no information was available within Latin-American populations.Aim To establish the genetic polymorphism of TPMT in an Argentine population. Methods TPMT enzymatic activity of 147 healthy Argentine subjects was measured using a high-performance liquid chromatography method. The genotyping assay for nine defective alleles (TPMT*2-*8) was based on restriction fragmentlength polymorphism polymerase chain reaction and allele-specific polymerase chain reaction methods.Results All subjects had detectable TPMT activity. Twelve individuals with low to intermediate activity were heterozygous for one of the