Molecular basis of cystic fibrosis in Lithuania. Incomplete CFTR mutation detection by PCR-based screening protocols (Articolo in rivista)

Type
Label
  • Molecular basis of cystic fibrosis in Lithuania. Incomplete CFTR mutation detection by PCR-based screening protocols (Articolo in rivista) (literal)
Anno
  • 2006-01-01T00:00:00+01:00 (literal)
Alternative label
  • Giannattasio S, Bobba A, Jurgelevicius V, Vacca RA, Lattanzio P, Merafina RS, Utkus A, Kucinskas V, Marra E. (2006)
    Molecular basis of cystic fibrosis in Lithuania. Incomplete CFTR mutation detection by PCR-based screening protocols
    in Genetic testing
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Giannattasio S, Bobba A, Jurgelevicius V, Vacca RA, Lattanzio P, Merafina RS, Utkus A, Kucinskas V, Marra E. (literal)
Pagina inizio
  • 169 (literal)
Pagina fine
  • 173 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 10 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Istituto di Biomembrane e Bioenergetica, CNR I-70126 Bari Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, Lithuania (literal)
Titolo
  • Molecular basis of cystic fibrosis in Lithuania. Incomplete CFTR mutation detection by PCR-based screening protocols (literal)
Abstract
  • Mutational analysis of CF transmembrane regulator (CFTR) gene was performed in 98 unrelated CF chromosomes from 49 Lithuanian CF patients through a combined approach in which p.F508del mutation was first screened by allele-specific PCR while CFTR mutations in non-p.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%). 7 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) allow the implementation of an early molecular or confirmatory CF diagnosis for 65 % of Lithuanian CF chromosomes. (literal)
Prodotto di
Autore CNR
Insieme di parole chiave

Incoming links:


Prodotto
Autore CNR di
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
Insieme di parole chiave di
data.CNR.it