Rapid genotyping of common deficient thiopurine S-methyltransferase alleles using the DNA-microchip technique

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High-throughput genotyping of thiopurine S-methyltransferase by denaturing HPLC.

BACKGROUND The thiopurine S:-methyltransferase (TPMT) genetic polymorphism has a significant clinical impact on the toxicity of thiopurine drugs, which are used in the treatment of leukemia and as immunosuppressants. To date, 10 mutant alleles are known that are associated with intermediate or low TPMT activity. To facilitate rapid screening of clinically relevant TPMT mutations, we developed a...

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Nomenclature for alleles of the thiopurine methyltransferase gene.

The drug-metabolizing enzyme thiopurine methyltransferase (TPMT) has become one of the best examples of pharmacogenomics to be translated into routine clinical practice. TPMT metabolizes the thiopurines 6-mercaptopurine, 6-thioguanine, and azathioprine, drugs that are widely used for treatment of acute leukemias, inflammatory bowel diseases, and other disorders of immune regulation. Since the d...

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Pharmacogenetics of thiopurine S-methyltransferase and thiopurine therapy.

Most medications exhibit wide interpatient variability in their efficacy and toxicity. For many medications, these interindividual differences result in part from polymorphisms in genes encoding drug-metabolizing enzymes, drug transporters, and/or drug targets (eg, receptors, enzymes). Pharmacogenomics is a burgeoning field aimed at elucidating the genetic basis of differences in drug efficacy ...

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Thiopurine S-methyltransferase and Pemphigus Vulgaris: A Phenotype-Genotype Study

Background & Objective:  Thiopurine drugs are considered as a treatment modality in various autoimmune disorders including pemphigus vulgaris (PV). These drugs are metabolized by an enzyme “Thiopurine S-methyl transferase” (TPMT). Various variants of this enzyme may have decreased activity lead...

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Clinical pharmacogenomics of thiopurine S-methyltransferase.

Thiopurine methyltransferase (TPMT) catalyzes the S-methylation of thiopurine drugs such as 6-mercaptopurine (6-MP), thioguanine and azathioprine (AZA). These drugs are used to treat conditions such as acute lymphoblastic leukemia, inflammatory bowel disease, rheumatoid arthritis, and organ transplant rejection. This review highlights the polymorphisms of TPMT gene and their clinical impact on ...

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ژورنال

عنوان ژورنال: European Journal of Human Genetics

سال: 2006

ISSN: 1018-4813,1476-5438

DOI: 10.1038/sj.ejhg.5201647