RESUMO
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 DeltaF508 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: DeltaF508, G542X, R1162X, G85E, N1303K, R334W, R75Q, R74W, D1270N, W1282X, DeltaI507, 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
Assuntos
Humanos , Fibrose Cística/genética , Mutação/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Alelos , Análise Mutacional de DNA , Genótipo , UruguaiRESUMO
The combined use of high resolution banding and chromosome painting techniques allowed us to identify a reciprocal translocation involving chromosomes 3 and 20 and simultaneous interstitial deletion of chromosome 3 in a patient with several minor anomalies of the face and hands. His karyotype is described as 46,XY,t(3;20) (p14.2;p12.2),del(3)(p11-p14.1).