The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania.
BACKGROUND
Cystic fibrosis (CF) is produced by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator Gene (CFTR) gene.


METHODS
One hundred twenty eight patients with CF were analysed for mutations in the CFTR gene in order to establish the frequency of CF mutations in the Romanian population. The chief methods of analysis were polymerase chain reaction (PCR) of DNA extracted from blood and electrophoresis of PCR products.


RESULTS
The frequency of F508del in CF chromosomes from Romania is approximately 56.3%. Other frequent mutations noted are: G542X (3.9%), W1282X (2.3%), and CFTRdele2,3(21 kb)(1.6%); the remaining mutations have frequencies below 1%.


CONCLUSIONS
We consider that the frequency of F508del in CF patients from Romania is higher than in previous reports, reaching 56.3%, probably owing to more rigorous selection of patients for genetic testing, allowing improved calculation of mutation frequencies.
Frenţescu
Lucian
L
Department of Cell and Molecular Biology, Iuliu Haţieganu University of Medicine and Pharmacy, 6 Pasteur Street, 400349 Cluj-Napoca, Romania. lfrentescu@umfcluj.ro
Brownsell
Emma
E
Hinks
Joanna
J
Malone
Geraldine
G
Shaw
Helen
H
Budişan
Livia
L
Bulman
Michael
M
Schwarz
Martin
M
Pop
Liviu
L
Filip
Mirela
M
Tomescu
Emil
E
Moşescu
Simona
S
Popa
Ioan
I
Benga
Gheorghe
G
D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012383:Romania / Q000453:epidemiology
D019005:Cystic Fibrosis Transmembrane Conductance Regulator