Functional characterization of the human thiopurine S-methyltransferase (TPMT) gene promoter
نویسندگان
چکیده
منابع مشابه
Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT*3A, TPMT*2): mechanisms for the genetic polymorphism of TPMT activity.
TPMT is a cytosolic enzyme that catalyzes the S-methylation of aromatic and heterocyclic sulfhydryl compounds, including medications such as mercaptopurine and thioguanine. TPMT activity exhibits autosomal codominant genetic polymorphism, and patients inheriting TPMT deficiency are at high risk of potentially fatal hematopoietic toxicity. The most prevalent mutant alleles associated with TPMT d...
متن کاملCommon Polymorphism’s Analysis of Thiopurine S-Methyltransferase (TPMT) in Iranian Population
Received: 22/Jul/2008, Accepted: 8/Mar/2009 Objective: Thiopurine S-methyltransferase (TPMT) catalyses the S-methylation of thiopurine drugs. Low activity phenotypes are correlated with several mutations in the TPMT gene and adverse drug reactions. The molecular basis for dissimilar enzymatic activity of TPMT has been established in Caucasians, African-Americans and Southwest Asians, but it rem...
متن کاملThiopurine methyltransferase (TPMT) genotyping to predict myelosuppression risk
Azathioprine (AZA), 6-mercaptopurine (6-MP), and thioguanine (TG) are thiopurine drugs. These agents are indicated for the treatment of various diseases including hematologic malignancies, inflammatory bowel disease (IBD), rheumatoid arthritis, and as immunosuppressants in solid organ transplants. Thiopurine drugs are metabolized, in part, by thiopurine methyltransferase (TPMT). TPMT displays g...
متن کاملRapid, long-range molecular haplotyping of thiopurine S-methyltransferase (TPMT) *3A, *3B, and *3C.
BACKGROUND Haplotyping is an important technique in molecular diagnostics because haplotypes are often more predictive for individual phenotypes than are the underlying single-nucleotide polymorphisms (SNPs). Until recently, methods for haplotyping SNPs separated by kilobase distances were laborious and not applicable to high-throughput screening. In the case of thiopurine S-methyltransferase (...
متن کاملPolymorphism of the thiopurine S-methyltransferase gene in African-Americans.
The molecular basis for the genetic polymorphism of thiopurine S -methyltransferase (TPMT) has been estab-lished for Caucasians, but it remains to be elucidated in African populations. In the current study, we determined TPMT genotypes in a population of 248 African-Americans and compared it with allele frequencies in 282 Caucasian Americans. TPMT genotype was determined in all individuals with...
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ژورنال
عنوان ژورنال: European Journal of Biochemistry
سال: 1998
ISSN: 0014-2956,1432-1033
DOI: 10.1046/j.1432-1327.1998.2560510.x