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NUDT15 - HRM PCR
Discrimination assay for Nudix Hydrolase 15 variants cod. BM-035
Principle of the test: Discrimination of Nudix Hydrolase 15 variants
Technology: Real Time PCR
Gene Target: Nudix Hydrolase 15
Specimen: DNA
Reporting Units: Haplotype
Number of tests: 25 tests BM-035
Kit storage: -20°C
Necessary equipment: CFX96 DetectionSystem
Status: Ready to use
NUDT15 - HRM PCR cod. BM-035
Discrimination assay for Nudix Hydrolase 15 variants
· NUDT15 High Resolution Melting assay complete kit 25 tests BM-035
Thiopurine drugs such as azathioprine (AZA), 6-mercaptopurine (6-MP) and 6-thioguanine (6-TG) are widely used in the treatment of acute lymphoblastic leukaemia (ALL), autoimmune diseases, inflammatory bowel disease and post-transplant organ rejection. Thiopurines are prodrugs, i.e. substances that are administered in an inactive form and only after metabolic processes are converted to the active form. Therefore, proteins involved in metabolic pathways could prolong the half-life of 6-MP, thereby increasing its side effects, especially neutropenia. Polymorphisms in the thiopurine methyltransferase (TPMT) gene have been linked to susceptibility to thiopurine-induced bone marrow suppression in patients. In particular, two variants in the NUDT15 gene have emerged as major determinants of mercaptopurine intolerance, especially in the Asian population: 50delGAGTCG, 55_56insGAG TCG in exon 1 (rs746071566) and 415C > T in exon 3 (rs116855232). The NUDT15-HRM PCR kit is a qualitative HRM PCR assay for the discrimination of the rs116855232 and rs746071566 allelic variants in the NUDT15 gene from DNA samples extracted from blood in EDTA, maintained at -20°C until extraction.
The product is used in conjunction with clinical data and other laboratory tests in assessing potential intolerance to thiopurine drugs.
Reference
1. Yu CH, Chang YH, Wang DS, Jou ST, Lin CY, Lin KH, Lu MY, Wu KH, Cheng CN, Chang HH, Chou SW, Su MY, Ni YL, Xu PY, Lin DT, Lin SW, Chen HY, Yang YL. Allele-specific polymerase chain reaction can determine the diplotype of NUDT15 variants in patients with childhood acute lymphoblastic Leukemia. Sci Rep. 2023 Jan 10;13(1):490. doi: 10.1038/s41598-023-27720-2. PMID: 36627439; PMCID: PMC9832159.
2. Xu Y, Qiao YQ, Li HY, Zhou M, Cai CW, Shen J, Ran ZH. NUDT15 genotyping during azathioprine treatment in patients with inflammatory bowel disease: implications for a dose-optimization strategy. Gastroenterol Rep (Oxf). 2020 Jun 26;8(6):437-444. doi: 10.1093/gastro/goaa021. PMID: 33442476; PMCID: PMC7793196.