Xavier Pepermans1, Soledad Mellado2, Sergio Chialina3, Marta Wagener4, Liliana Gallardo5, Hilda Lande5, Walter Bordino6, Daniel Baran7, Vincent Bours8, Teresinha Leal9. 1. 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. 2. Laboratorio STEM, Rosario City, Santa Fe province, Argentina. 3. Laboratorio STEM, Rosario City, Santa Fe province, Argentina; Instituto Universitario Italiano de Rosario, Rosario City, Santa Fe province, Argentina. 4. Hospital de Niños "Dr. Orlando Alassia", Santa Fe City, Santa Fe province, Argentina. 5. Hospital de Niños "Víctor J. Vilela", Rosario City, Santa Fe province, Argentina. 6. Instituto Universitario Italiano de Rosario, Rosario City, Santa Fe province, Argentina. 7. Institut de la Mucoviscidose, Université libre de Bruxelles, Brussels, Belgium. 8. Center for Human Genetics, CHU Sart-Tilman, Université de Liège, Liège, Belgium. 9. Louvain Center for Toxicology and Applied Pharmacology, Institut de Recherche Expérimentale et Clinique, Université catholique de Louvain, Brussels, Belgium.
Abstract
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.
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.