CHARACTERIZATION OF NUDT15 GENETIC VARIATIONS IN CHILDREN WITH ACUTE LYMPHOBLASTIC LEUKEMIA
6-Mercaptopurine (6-MP) is one of the main chemotherapy agents in the maintenance phase of therapy for acute lymphoblastic leukemia (LLA). Genetic variations in the nudix hydrolase 15 (NUDT15) gene have been studied as important determinants of 6-MP intolerance and hematopoietic toxicity in pediat...
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| Format: | Final Project |
| Language: | Indonesia |
| Online Access: | https://digilib.itb.ac.id/gdl/view/82623 |
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| Institution: | Institut Teknologi Bandung |
| Language: | Indonesia |
| Summary: | 6-Mercaptopurine (6-MP) is one of the main chemotherapy agents in the maintenance phase of therapy for acute lymphoblastic leukemia (LLA). Genetic variations in the nudix hydrolase 15 (NUDT15) gene have been studied as important determinants of 6-MP intolerance and hematopoietic toxicity in pediatric LLA patients. Variations in the NUDT15 gene have never been studied in the Indonesian population. This study was conducted to characterize genetic variations in the NUDT15 gene in a population of children with LLA in Indonesia. The genetic variations that has been the focus of this study are rs116855232 (p.Arg139Cys), rs147390019 (p.Arg139His), rs186364861 (p.Val18Ile), and rs554405994 (p.Val18_Val19insGlyVal). This study involved NUDT15 genotyping using conventional PCR and Sanger sequencing methods in 10 patients who met the inclusion criteria in Bandung, Indonesia. Based on analysis of genotyping data, the genetic variation that was the focus of this study was not found in all samples that were analyzed. Thus, it can be concluded that all samples in this study had the status of normal metabolizers of the drug 6-MP so they had a low potential for experiencing toxicity due to this drug.
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