title: [Analysis of DNA samples by Abbott Commercial Tests for cystic fibrosis].
abstract: The use of commercial tests (Abbott) for cystic fibrosis, version 2 (CFv. 2) and 3 (CFv. 3) and analysis of reaction products by capillary electrophoresis and genotyping on an ABI PRISM 310 genetic analyzer (Applied Biosystems) are presented, along with the results of test validation by concurrent processing of DNA samples on a Light Cycler (Roche Diagnostics) and INNO-LIPA CFTR 19 multiparameter screening test (Innogenetics). The new Abbott commercial test for cystic fibrosis, CFv. 3, allows for determination of the exact number of the potential gene mutations (33 mutations). Other mutations may be present but cannot be established by using this test. Distribution frequency of CFTR gene mutations varies in populations, and this test covers the most frequent mutatiocs in the world. Based on the results obtained by validation, the use of this test is recommended for the following reasons: - the diagnosis of cystic fibrosis is reliable and relatively inexpensive since the reaction products allow for the most current analysis by means of capillary electrophoresis, and computer data processing which will soon enable routine sequencing and thereby determination of point mutations, - it is possible to use very small quantities of isolated DNA and to directly apply microvolumes of blood with EDTA, and - identification of a large number of current mutations has been made possible.
authors.affiliation: Klinicki zavod za laboratorijsku dijagnostiku Medicinskog fakulteta Sveucilista u Zagrebu i Klinickoga bolnickog centra Zagreb, Zagreb, Hrvatska.
authors.forename: Ljiljana
authors.initials: L
authors.lastname: Juricić
authors.forename: Jadranka
authors.initials: J
authors.lastname: Sertić
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D006580:Genetic Carrier Screening; D006801:Humans; D009154:Mutation; D011933:Reagent Kits, Diagnostic
chemical_list: D011933:Reagent Kits, Diagnostic; D019005:Cystic Fibrosis Transmembrane Conductance Regulator