Related Experiment Video
Updated: Oct 11, 2025
A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
The Examination of a TPMT Gene Before Administration of Azathioprine in Rheumatology Practice and Identification of a
Katerina Pavelcova, Petra Hanova1, Hana Ciferska1
1From the Institute of Rheumatology.
Methods:
Two-hundred patients were assessed for the presence of genetic allelic variants using PCR amplification and direct sequencing.
Results:
In 19 patients, we detected genetic allelic variants affecting TPMT activity; in 1 case, it was an unpublished heterozygous variant c.85T>C (p.W29R); of those, 15 patients were switched from AZA to a different medication, and 1 patient was prescribed a reduced dose of AZA.
Conclusions:
Our findings show the importance of testing for variants of the TPMT gene before the administration of AZA in clinical rheumatology practice. Patients with documented episodes of leukopenia or elevated liver biochemical tests while on AZA should undergo TPMT genotype testing and/or TPMT enzyme activity testing.
More Related Videos
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
