Common mutations in cuban cystic fibrosis patients

Common mutations in cuban cystic fibrosis patients

Abstract So far, more than 1500 mutations have been reported in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene. Mutational spectrum varies in accordance with geographic and/or ethnic origin. In this study, we have analyzed seven common CF mutations (p.F508del, p.G542X, p.R1162...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Journal of cystic fibrosis 2009-01, Vol.8 (1), p.47-49
Hauptverfasser: Collazo, Teresa, Bofill, Ana María, Clark, Yulia, Hernández, Yadira, Gómez, Manuel, Rodríguez, Fidel, Ramos, María D, Giménez, Javier, Casals, Teresa, Rojo, Manuel
Format: Artikel
Sprache:eng
Schlagworte:
CFTR gene
Cuba
Cuban population
Cystic fibrosis
Cystic Fibrosis - genetics
DNA Mutational Analysis
Gene Frequency
Genetic Variation
Genetics, Population
Humans
Mutation - genetics
Pulmonary/Respiratory
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Abstract So far, more than 1500 mutations have been reported in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene. Mutational spectrum varies in accordance with geographic and/or ethnic origin. In this study, we have analyzed seven common CF mutations (p.F508del, p.G542X, p.R1162X, p.N1303K, p.R334W, p.R553X and c.3120 + 1G > A) taking into account the ethnic origin of the Cuban population which is mainly influenced by Spanish and sub-Sahara African contribution. All but p.N1303K have been detected in our patients, the p.F508del being the most prevalent (37.9%). Overall, six mutations showed frequencies above 1% accounting for 55.5% of the Cuban CF alleles.
ISSN:1569-1993
1873-5010
DOI:10.1016/j.jcf.2008.09.004