Polimorfismo del gen de la tiopurina S-metiltransferasa en donantes de sangre de un hospital universitario
| Autor: | Mauricio Venegas S, Milton Larrondo L, Ariel Castro L, Luis Álvarez L., Natalia Becerra B, Rodrigo Quera P |
|---|---|
| Jazyk: | Spanish; Castilian |
| Rok vydání: | 2009 |
| Předmět: |
education.field_of_study
Methyltransferase Genetic polymorphism Thiopurine methyltransferase biology business.industry Severe myelosuppression Population Azathioprine General Medicine Methyltransferases Blood donors Immunology biology.protein Thiopurine S-Methyltransferase Gene medicine education business Gene medicine.drug |
| Zdroj: | Revista médica de Chile v.137 n.2 2009 SciELO Chile CONICYT Chile instacron:CONICYT |
| Popis: | Background: Thiopurine S-methyltransferase (TPMT) is a cytosolic enzyme that catalyzes the S-methylation of 6-mercaptopurine and azathioprine. Low-activity phenotypes are correlated with polymorphism in the TPMT gene. Patients with low or undetectable TMPT activity could develop severe myelosuppression when they are treated with standard doses of thiopurine drugs. Since ethnic differences in the TPMT gen polymorphism have been demonstrated worldwide, its assessment in the Chilean population is worthwhile. Aim: To investigate the TMPT gene polymorphism in a Chilean blood donor individuals. Subjects and Methods: The frequency of four allelic variants of the TPMT gene, *2 (G238C), *3A (G460A andA719G), *3B (G460A) and *3C (A719G) were analyzedin 210 Chilean blood donors, using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP) and allele-specific PCR-based assays. Results: TPMT variants associated to low enzymatic activity, were detected in 16 subjects (8%), who had a heterozygous genotype (*3A in 12; *3C in three and *2 in one subject). No TPMT*3B allelic variant was found. The normal allele (wild-type) was found in 92% ofstudied individuals. Conclusions: The allele TPMT*3A, is the most prevalent in this group of Chilean blood donors, as in Caucasian populations. |
| Databáze: | OpenAIRE |
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