Identification of two novel mutant alleles of human thiopurine S-methyltransferase, and diagnostic uses thereof
US5856095A · kind A · utility
Assignee
Inventors
Key dates
| Filing date | Aug 14, 1995 |
| Grant date | Jan 5, 1999 |
| Priority date | — |
| Expiry date | Aug 14, 2015 |
Classification
- Technology area (CPC Y)Emerging Cross-Sectional Technologies
- CPC primaryY10S435/81
- WIPO fieldBiotechnology
- WIPO sectorChemistry
Abstract
Mutants of thiopurine S-methyltransferase (TPMT) are described. TPMTA mutant has a point mutation at cDNA position 238 (G.sup.238 .fwdarw.C), and TPMTB involves two nucleotide transitions at cDNA positions 460 (G.sup.460 .fwdarw.A) and 719 (A.sup.719 .fwdarw.G). TPMTB is the predominant mutant allele associated with human TPMT-deficiency which can cause potentially fatal toxicity when patients are treated with mercaptopurine, azathioprine, or thioguanine. The mutant alleles as well as PCR fragments, mutant proteins and antibodies therefor, together with kits and methods for assaying the TPMT genotype of individual patients are disclosed.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.