Present address: Department of Pharmacy, University of Tokyo Hospital, Faculty of Medicine, Tokyo, Japan.
Frequencies of thiopurine S-methyltransferase mutant alleles (TPMT*2, *3A, *3B and *3C) in 151 healthy Japanese subjects and the inheritance of TPMT*3C in the family of a propositus
Article first published online: 12 JAN 2002
British Journal of Clinical Pharmacology
Volume 51, Issue 5, pages 475–477, May 2001
How to Cite
Kubota, T. and Chiba, K. (2001), Frequencies of thiopurine S-methyltransferase mutant alleles (TPMT*2, *3A, *3B and *3C) in 151 healthy Japanese subjects and the inheritance of TPMT*3C in the family of a propositus. British Journal of Clinical Pharmacology, 51: 475–477. doi: 10.1046/j.1365-2125.2001.01371.x
- Issue published online: 12 JAN 2002
- Article first published online: 12 JAN 2002
- Received 17 August 2000, accepted 24 January 2000.
Aims To determine the frequencies of four thiopurine S-methyltransferase (TPMT) mutant alleles, TPMT*2, *3A, *3B and *3C in a normal Japanese population.
Methods Genotypes were determined in 151 Japanese subjects and in six family members of a propositus using polymerase chain reaction (PCR)-restriction fragment length polymorphism and allele-specific PCR assays.
Results Only one TPMT*3C heterozygote was identified (gene frequency 0.3%). TPMT*2,*3A and *3B were not detected. In addition, TPMT*3C was found to have been inherited from the mother and passed on to the son of the propositus.
Conclusions TPMT*3C appears to be most prevalent among the known mutant allele of TPMT in a Japanese population which may have some relevance for the treatment of Japanese patients with thiopurine drugs.