Cystic fibrosis diagnostics in Kaunas medical university Hospital (Lithuania)

Abstract

Cystic Fibrosis (CF) is one of the most common inherited disease in European population . 2004 - 2005 years 22 patients suspected with CF diagnosis were tested in Kaunas Medical University Hospital . We analysed patients DNA from blood samples for simultaneous detection and identification of the commonest 19 Cystic Fibrosis Fransmembrane Conductance Regulator (CFTR) gene mutations in European population (with INNO - LiPA CFTR 19 kit, INNOGENETICS, Belgium) . Results: 3 patients (13,6 %) had genotype F508del/F508del . 5 patients were heterozygotes for mutation F508del (genotype F508/N; N - normal) . 14 patients had neither F508del nor another mutations from the 19 tested mutations .conclusion: The frequency of F508del/ F508del homozygotes (13,6 %) is lower than in Western European CF patient’s groups . The explanations of results could be different frequency or (and) another mutated alleles in Central and Eastern, and Western European population or incorrect clinical suspicion of Cystic Fibrosis.