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

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.

DOI: 10.1046/j.1365-2125.2001.01371.x

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