Identification and frequencies of cystic fibrosis mutations in central Argentina.
BACKGROUND
The Argentinian population is mainly of Caucasian origin, with a small contingent of indigenous descent. The aim of this study is to test the hypothesis that a panel of mutations designed for European countries is not optimal as a first-line molecular diagnosis for routine use in this country of mixed European origin.


METHODS
Phenotype analyses combined with a European screening panel of 71 mutations followed by Sanger sequencing and large rearrangement study, were used to characterize the identification and distribution of CFTR mutations in the Santa Fe province of Argentina.


RESULTS
Clinical review of 121 subjects suspected of CF during childhood led to selection of 83 unrelated patients. Thirty four different mutations, including two new ones, c.2554dupT and p.Leu49Pro, were detected. The total sensitivity was 91% (n = 151/166 alleles).


CONCLUSIONS
Frequencies of CFTR mutations in Argentinian populations differ from those of their European ancestry. A new first line panel of 21 CFTR mutations with a sensitivity of 84% is proposed for routine use in central Argentina.
Center for Human Genetics, CHU Sart-Tilman, Université de Liège, Liège, Belgium; Center for Human Genetics, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium. Electronic address: xavier.pepermans@uclouvain.be.
Xavier
X
Pepermans
Laboratorio STEM, Rosario City, Santa Fe province, Argentina.
Soledad
S
Mellado
Laboratorio STEM, Rosario City, Santa Fe province, Argentina; Instituto Universitario Italiano de Rosario, Rosario City, Santa Fe province, Argentina.
Sergio
S
Chialina
Hospital de Niños "Dr. Orlando Alassia", Santa Fe City, Santa Fe province, Argentina.
Marta
M
Wagener
Hospital de Niños "Víctor J. Vilela", Rosario City, Santa Fe province, Argentina.
Liliana
L
Gallardo
Hospital de Niños "Víctor J. Vilela", Rosario City, Santa Fe province, Argentina.
Hilda
H
Lande
Instituto Universitario Italiano de Rosario, Rosario City, Santa Fe province, Argentina.
Walter
W
Bordino
Institut de la Mucoviscidose, Université libre de Bruxelles, Brussels, Belgium.
Daniel
D
Baran
Center for Human Genetics, CHU Sart-Tilman, Université de Liège, Liège, Belgium.
Vincent
V
Bours
Louvain Center for Toxicology and Applied Pharmacology, Institut de Recherche Expérimentale et Clinique, Université catholique de Louvain, Brussels, Belgium.
Teresinha
T
Leal
D001118:Argentina; D003550:Cystic Fibrosis / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009154:Mutation
Argentina; CFTR mutations; Cystic fibrosis; First-line panel; Genetics; Phenotype