Ontology highlight
ABSTRACT:
SUBMITTER: Krynetski EY
PROVIDER: S-EPMC42614 | biostudies-other | 1995 Feb
REPOSITORIES: biostudies-other
Krynetski E Y EY Schuetz J D JD Galpin A J AJ Pui C H CH Relling M V MV Evans W E WE
Proceedings of the National Academy of Sciences of the United States of America 19950201 4
Thiopurine S-methyltransferase (TPMT; S-adenosyl-L-methionine:thiopurine S-methyltransferase, EC 2.1.1.67) activity exhibits genetic polymorphism, with approximately 0.33% of Caucasians and African-Americans inheriting TPMT deficiency as an autosomal recessive trait. To determine the molecular genetic basis for this polymorphism, we cloned the TPMT cDNA from a TPMT-deficient patient who had developed severe hematopoietic toxicity during mercaptopurine therapy. Northern blot analysis of RNA isola ...[more]