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Novel thiopurine S-methyltransferase (TPMT) variant identified in Malay individuals.

Authors :
Lee, Chun Kiat
Huan, Pei Tee
Chai, Chean Nee
Ng, Li Jie
Koay, Evelyn Siew-Chuan
Lee, Ogestelli Fabia
Tan, Malcolm
Loh, Tze Ping
Source :
Clinical Chemistry & Laboratory Medicine; Oct2024, Vol. 62 Issue 11, pe247-e250, 4p
Publication Year :
2024

Abstract

This article discusses the discovery of a novel variant of the thiopurine S-methyltransferase (TPMT) gene in a Malay individual. The TPMT gene is important for the metabolism of thiopurine drugs used in the treatment of various conditions. The variant, which involves an in-frame deletion and insertion event, was found to be specific to the Malay population and was not present in major genomic databases. The study highlights the importance of genetic testing in optimizing drug therapy and calls for further investigation into the variant's clinical implications. [Extracted from the article]

Details

Language :
English
ISSN :
14346621
Volume :
62
Issue :
11
Database :
Complementary Index
Journal :
Clinical Chemistry & Laboratory Medicine
Publication Type :
Academic Journal
Accession number :
179977733
Full Text :
https://doi.org/10.1515/cclm-2024-0494