Cystic fibrosis in Uruguay
Genet. mol. res. (Online)
;
1(1): 32-38, Mar. 2002.
Article
in English
| LILACS
| ID: lil-417654
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
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Cystic Fibrosis Transmembrane Conductance Regulator
/
Cystic Fibrosis
/
Mutation
Limits:
Humans
Country/Region as subject:
South America
/
Uruguay
Language:
English
Journal:
Genet. mol. res. (Online)
Journal subject:
Molecular Biology
/
Genetics
Year:
2002
Type:
Article
Affiliation country:
Uruguay
Institution/Affiliation country:
Instituto de Investigaciones Biológicas Clemente Estable/UY
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