title: A fully integrated and automated detection system for single nucleotide polymorphisms of UGT1A1 and CYP2C19.
abstract: The need for examinations of single nucleotide polymorphisms (SNPs) on drug metabolizing enzymes is accelerating. Especially, SNPs of UTG1A1 and CYP2C19 are important for patients who are treated with irinotecan and proton pump inhibitors, respectively. Thus, a method for the rapid, fully automated, and accurate measurement of these SNPs is desired. We genotyped 109 Japanese volunteers for UGT1A1*6, UGT1A1*28, CYP2C19*2, and CYP2C19*3 with the quenching probe (QP) method. Only 90 min after whole blood was applied, QP method enabled to detect these SNPs automatically. The results obtained by QP method were absolutely identical to those examined by the conventional direct sequencing. These findings indicate that the QP method will enable point-of-care testing in clinical laboratories and patient-oriented therapy with its convenience and speed for patients who are treated with irinotecan or proton pump inhibitors.
authors.affiliation: Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Faculty of Medicine, Saga University, Saga, Japan.
authors.forename: Norio
authors.initials: N
authors.lastname: Ureshino
authors.forename: Naoko
authors.initials: N
authors.lastname: Aragane
authors.forename: Tomomi
authors.initials: T
authors.lastname: Nakamura
authors.forename: Masaru
authors.initials: M
authors.lastname: Ide
authors.forename: Sakiko
authors.initials: S
authors.lastname: Mochinaga
authors.forename: Noriyasu
authors.initials: N
authors.lastname: Fukushima
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Hayashi
authors.forename: Eizaburo
authors.initials: E
authors.lastname: Sueoka
authors.forename: Shinya
authors.initials: S
authors.lastname: Kimura
mesh_terms: D000972:Antineoplastic Agents, Phytogenic / Q000627:therapeutic use; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D001331:Automation; D002166:Camptothecin / Q000031:analogs & derivatives / Q000627:therapeutic use; D065731:Cytochrome P-450 CYP2C19; D003955:Diagnostic Tests, Routine; D005838:Genotype; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D000077146:Irinotecan; D019095:Point-of-Care Systems; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D054328:Proton Pump Inhibitors / Q000627:therapeutic use; D000099148:UGT1A1 Enzyme
chemical_list: D000972:Antineoplastic Agents, Phytogenic; D001189:Aryl Hydrocarbon Hydroxylases; D002166:Camptothecin; D065731:Cytochrome P-450 CYP2C19; D014453:Glucuronosyltransferase; D000077146:Irinotecan; D054328:Proton Pump Inhibitors; D000099148:UGT1A1 Enzyme; C045793:CYP2C19 protein, human