T Kubota1, K Chiba. 1. Research Testing Department, SRL, Inc., Hachioji-shi, Tokyo, Japan.
Abstract
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.
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.
Authors: H L Tai; E Y Krynetski; C R Yates; T Loennechen; M Y Fessing; N F Krynetskaia; W E Evans Journal: Am J Hum Genet Date: 1996-04 Impact factor: 11.025
Authors: C Spire-Vayron de la Moureyre; H Debuysere; B Mastain; E Vinner; D Marez; J M Lo Guidice; D Chevalier; S Brique; K Motte; J F Colombel; D Turck; C Noel; R M Flipo; A Pol; M Lhermitte; J J Lafitte; C Libersa; F Broly Journal: Br J Pharmacol Date: 1998-10 Impact factor: 8.739