Cystic fibrosis in Uruguay
Genet. mol. res. (Online)
; Genet. mol. res. (Online);1(1): 32-38, Mar. 2002.
Article
em En
| LILACS
| ID: lil-417654
Biblioteca responsável:
BR1.1
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
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Regulador de Condutância Transmembrana em Fibrose Cística
/
Fibrose Cística
/
Mutação
Limite:
Humans
País/Região como assunto:
America do sul
/
Uruguay
Idioma:
En
Revista:
Genet. mol. res. (Online)
Assunto da revista:
BIOLOGIA MOLECULAR
/
GENETICA
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Uruguai
País de publicação:
Brasil