Allele frequency of inosine triphosphate pyrophosphatase gene polymorphisms in a Japanese population

Marinaki, AM, Sumi, S, Arenas, M, Fairbanks, L, Harihara, S, Shimizu, K, Ueta, A and Duley, JA (2004) Allele frequency of inosine triphosphate pyrophosphatase gene polymorphisms in a Japanese population. Nucleosides Nucleotides & Nucleic Acids, 23 8-9: 1399-1401.


Author Marinaki, AM
Sumi, S
Arenas, M
Fairbanks, L
Harihara, S
Shimizu, K
Ueta, A
Duley, JA
Title Allele frequency of inosine triphosphate pyrophosphatase gene polymorphisms in a Japanese population
Journal name Nucleosides Nucleotides & Nucleic Acids   Check publisher's open access policy
ISSN 1525-7770
Publication date 2004
Sub-type Article (original research)
DOI 10.1081/NCN-200027641
Volume 23
Issue 8-9
Start page 1399
End page 1401
Total pages 3
Place of publication New York
Publisher Marcel Dekker Inc
Language eng
Abstract The enzyme inosine triphosphate pyrophosphatase (ITPase) catalyses the pyrophosphohydrolysis of ITP to IMP. ITPase deficiency is a clinically benign autosomal recessive condition characterised by the abnormal accumulation of ITP in erythrocytes. A deficiency of ITPase may predict adverse reactions to therapy with the thiopurine drug 6-mercaptopurine and its prodrug azathioprine. In this study, we examine the frequencies of ITPA polymorphisms in 100 healthy Japanese individuals. The allele frequency of the 94C > A variant in the Japanese sample was 0.135 (Caucasian allele frequency 0.06). The IV2 + 21A > C polymorphism was not found in Japanese (Caucasian allele frequency 0.130). Allele frequencies of the 138G > A, 561G > A and 708G > A polymorphisms were 0.57, 0.18 and 0.06 respectively in the Japanese population, and with the exception of the 138G > A polymorphism, similar to allele frequencies in Caucasians.
Keyword Biochemistry & Molecular Biology
azathioprine
6-mercaptopurine
ITPA
ITPase
inosine triphosphate pyrophosphohydrolase
thiopurine methyltransferase
Japanese
Deficiency
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Pharmacy Publications
 
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