Analysis of 31 CFTR mutations in 55 families from the South of Spain.
We carried out a molecular analysis of 350 chromosomes from 55 families originating from the South of Spain (Andalucia) who were diagnosed with cystic fibrosis (CF). We used polymerase chain reaction, followed by an oligonucleotide ligation assay (OLA) and sequence-coded separation using capillary electrophoresis. A frequency of 43.5% for DeltaF508 was found, making it the most common CF mutation in our sample. Seven more mutations (G542X, R334W, R1162X, 2789+5G-->A, R117H, DeltaI507 and W1282X) were detected and accounted for 24.7% of the total. The remaining mutations (31.8%) were undetectable with the methodology used in this study.
Gómez-Llorente
M A
MA
Department of Pediatrics, University of Sevilla, Seville, Spain.
Suarez
A
A
Gómez-Llorente
C
C
Muñoz
A
A
Arauzo
M
M
Antunez
A
A
Navarro
M
M
Gil
A
A
Gómez-Capilla
J A
JA
D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D019075:Electrophoresis, Capillary; D005787:Gene Frequency; D006801:Humans; D009154:Mutation; D009841:Oligonucleotides / Q000378:metabolism; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013030:Spain
C505032:CFTR protein, human; D009841:Oligonucleotides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator