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PACSIN2 PCR real time
Discrimination assay of PACSIN2 T>C variant cod. BM-042
Principle of the test: Discrimination of PACSIN2 T>C variant
Technology: Real Time PCR
Gene Target: PACSIN2 gene
Specimen: DNA
Reporting Units: Genotype
Number of tests: 25 tests BM-043
Kit storage: -20°C
Necessary equipment: CFX96 DetectionSystem
Status: Ready to use
PACSIN2 PCR real time cod. BM-043
Discrimination assay of PACSIN2 T>C variant
· PACSIN2 PCR real time complete kit 25 tests BM-043
Thiopurines, such as mercaptopurine and azathioprine, are purine analogues used in the treatment of hematological malignancies (i.e., acute lymphoblastic leukemia, ALL) and inflammatory conditions (i.e., inflammatory bowel diseases, IBD).
Through a complex anabolic enzymatic pathway, thiopurines are biotransformed into thionucleotides that exert the cytotoxic action responsible for treatment efficacy; thiopurines also undergo catabolic processes, in which the enzyme thiopurine S-methyltransferase (TPMT) plays a major role by transforming mercaptopurine into the inactive methylmercaptopurine metabolite.
PACSIN2 (Protein kinase C and casein kinase II interacting protein-2 or Syndapin 2) and its intronic SNP rs2413739 (T>C) have been identified as the most important trans-acting gene and genetic variant influencing TPMT activity.
The PACSIN2 rs2413739 TT genotype, indeed, was associated with lower TPMT activity during maintenance therapy and with an increased incidence of grade III-IV gastrointestinal (GI) toxicities during the consolidation phase.
The PACSIN2 PCR real time BM-043 is a research use only (RUO) assay that can discriminate between the PACSIN2 CC and PACSIN2 TT variants ensuring valid results in the population screening.
Reference
1. Bermejo F, Aguas M, Chaparro M, Domènech E, Echarri A, García-Planella E, Guerra I, Gisbert JP, López-Sanromán A, en representación de GETECCU (2018) Recommendations of the Spanish working group on Crohn's disease and ulcerative colitis (GETECCU) on the use of thiopurines in inflammatory bowel disease. Gastroenterol Hepatol 41: 205–221.
2. Zaza G, Cheok M, Krynetskaia N, Thorn C, Stocco G, Hebert JM, McLeod H, Weinshilboum RM, Relling MV, Evans WE, et al. (2010) Thiopurine pathway. Pharmacogenet Genomics 20: 573–574.
3. Franca R, Stocco G, Favretto D, Giurici N, Del Rizzo I, Locatelli F, Vinti L, Biondi A, Colombini A, Fagioli F, Barisone E, Pelin M, Martellossi S, Ventura A, Decorti G, Rabusin M. PACSIN2 rs2413739 influence on thiopurine pharmacokinetics: validation studies in pediatric patients. Pharmacogenomics J. 2020 Jun;20(3):415-425.