Frequencies of thiopurine S-methyltransferase mutant alleles (TPMT2, 3A, 3B and 3C) in 151 healthy Japanese subjects and the inheritance of TPMT*3C in the family of a propositus

被引：62

作者：

Kubota, T

Chiba, K

机构：

[1] Chiba Univ, Fac Pharmaceut Sci, Lab Biochem Pharmacol & Toxicol, Inage Ku, Chiba, Japan

[2] SRL Inc, Res Testing Dept, Hachioji, Tokyo, Japan

来源：

BRITISH JOURNAL OF CLINICAL PHARMACOLOGY | 2001年 / 51卷 / 05期

关键词：

genotype; Japanese; TPMT*3C;

D O I：

10.1046/j.1365-2125.2001.01371.x

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

Aims To determine the frequencies of four thiopurine S-methyltransferase (TPMT) mutant alleles, TPMT(star)2, (star)3A, (star)3B and (star)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(star)3C heterozygote was identified (gene frequency 0.3%). TPMT(star)2, (star)3A and (star)3B were not detected. In addition, TPMT(star)3C was found to have been inherited from the mother and passed on to the son of the propositus. Conclusions (TPMTC)-C-star3 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.

引用

页码：475 / 477

页数：3

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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

Frequencies of thiopurine S-methyltransferase mutant alleles (TPMT2, 3A, 3B and 3C) in 151 healthy Japanese subjects and the inheritance of TPMT*3C in the family of a propositus