title: Molecular basis of cystic fibrosis in Lithuania: incomplete CFTR mutation detection by PCR-based screening protocols.
abstract: Mutational analysis of the cystic fibrosis transmembrane regulator (CFTR) gene was performed in 98 unrelated CF chromosomes from 49 Lithuanian CF patients through a combined approach in which the p.F508del mutation was first screened by allele-specific PCR while CFTR mutations in nonp.F508del chromosomes have been screened for by denaturing gradient gel electrophoresis analysis. A CFTR mutation was characterized in 62.2% of CF chromosomes, two of which (2.0%) have been previously shown to carry a large gene deletion CFTRdele2,3(21 kb). The most frequent Lithuanian CF mutation is p.F508del (52.0%). Seven CFTR mutations, p.N1303K (2.0%), p.R75Q (1.0%), p.G314R (1.0%), p.R553X (4.2%), p.W1282X (1.0%), and g.3944delGT (1.0%), accounted for 10.1% of Lithuanian CF chromosomes. It was not possible to characterize 35.8% of the CF Lithuanian chromosomes. Analysis of intron 8 (TG)mTn and M470V polymorphic loci did not permit the characterization of the CFTR dysfunction underlying the CF phenotype in the patients for which no CFTR mutation was identified. Thus, screening of the eight CFTR mutations identified in this study and of the large deletion CFTRdele2,3(21 kb) allows the implementation of an early molecular or confirmatory CF diagnosis for 65% of Lithuanian CF chromosomes.
authors.affiliation: Consiglio Nazionale delle Ricerche, Istituto di Biomembrane e Bioenergetica, Bari, Italy. s.giannattasio@ibbe.cnr.it
authors.forename: S
authors.initials: S
authors.lastname: Giannattasio
authors.forename: A
authors.initials: A
authors.lastname: Bobba
authors.forename: V
authors.initials: V
authors.lastname: Jurgelevicius
authors.forename: R A
authors.initials: RA
authors.lastname: Vacca
authors.forename: P
authors.initials: P
authors.lastname: Lattanzio
authors.forename: R S
authors.initials: RS
authors.lastname: Merafina
authors.forename: A
authors.initials: A
authors.lastname: Utkus
authors.forename: V
authors.initials: V
authors.lastname: Kucinskas
authors.forename: E
authors.initials: E
authors.lastname: Marra
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000172:deficiency / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008097:Lithuania; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator