Gerardo Luzardo¹, Isabel Aznarez¹, Beatriz Crispino¹, Adriana Mimbacas^1,2, Liria Martínez³, Rossana Poggio¹, Julian Zielenski⁴, Lap-Chee Tsui⁴ and Horacio Cardoso¹

¹Departamento de Citogenética, Instituto de Investigaciones Biológicas Clemente Estable, Montevideo, Uruguay

²Unidad Asociada Instituto de Biología, Facultad de Ciencias, Montevideo, Uruguay

³Policlínica de Neumología Pediátrica, Hospital Pereira Rossell, Montevideo, Uruguay

⁴Department of Genetics, Research Institute, The Hospital for Sick Children and Department of Molecular and Medical Genetics, The University of Toronto, Toronto, Ontario, Canada

Corresponding author: H. Cardoso

E-mail: hca@iibce.edu.uy

Genet. Mol. Res. 1 (1): 32-38 (2002)

Received February 12, 2002

Published February 28, 2002

ABSTRACT. We conducted clinical and genetic analyses of 52 cystic fibrosis (CF) patients in Uruguay, which is about half of the known affected individuals in the country. A relatively high proportion had a mild presentation, characterized by pancreatic sufficiency (28%), a strong pulmonary component (97%), and borderline sweat electrolyte measurements (25%). Mutational analysis of CF chromosomes demonstrated a relatively low incidence of the DF508 allele (40%) and a large number of other cystic fibrosis conductance regulator mutations, with an overall detection rate of about 71%. Fifteen different mutations were detected in our patients: DF508, G542X, R1162X, G85E, N1303K, R334W, R75Q, R74W, D1270N, W1282X, DI507, 2789+5G®A, R1066C, -816C/T, R553X, as well as RNA splicing variant IVS8-5T. This group of Uruguayan CF patients has some characteristics in common with other populations of similar origin (Hispanics), as well as some unique characteristics.

Key words: Cystic fibrosis, Autosomal genetic disease, Cystic fibrosis transmembrane conductance regulator mutations