Important Haplotype Information for TPMT
Submitted by: Liewei Wang, Linda Pelleymounter, Richard Weinshilboum and Julie A. Johnson(PPII)
Reviewed by: Reviewed
Submitted date: January 19, 2007
There is One Important Haplotype for TPMT.
- TPMT: *3A
| Gene HGNC Name: | TPMT |
|---|---|
| Haplotype Significance: | This haplotype contains two nonsynonymous SNPs and is the most common TPMT variation occuring in the Caucasian population. This haplotype results in significant decreases in TPMT enzymatic activity resulting in toxicity when thiopurine therapy is administered. |
| Does this haplotype span more than one gene? | No |
| Definitive Publication or Website: | Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism[PMID: 8561894] . Thiopurine S-methyltransferase deficiency: two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians [PMID 8644731]. |
| How many SNPs, indels, repeats define this haplotype? | TPMT *3B and *3C (615 G>A and 874 A>G) |