Cystic fibrosis: low frequency of DF508 mutation in 2 population samples from Rio de Janeiro, Brazil.
Hum Biol
; 71(2): 189-96, 1999 Apr.
Article
en En
| MEDLINE
| ID: mdl-10222642
Blood samples from 44 unrelated cystic fibrosis (CF) patients from Rio de Janeiro, Brazil, were analyzed for the 8 European CF mutations. Six homozygous and 15 heterozygous carriers of the DF508 mutation were found, corresponding to 47.7% of CF patients (allele frequency 0.3068). The G542X and G551D mutations were also observed with allele frequencies of 0.0227 and 0.0114, respectively. An analysis of the DF508 mutation in 291 randomly chosen, healthy individuals was performed, and only 3 heterozygous carriers were identified. These results show that the frequency of the DF508 allele in Rio de Janeiro is much lower than the world average; this may be due to the extremely heterogeneous ethnic admixture of the study population. By combining the results of these 2 different samples (CF patients and random population) and admixture data from Rio de Janeiro, we can estimate the CF incidence in this population to be 1:3542 individuals. However, taking into account the Rio de Janeiro ethnic admixture, we can find an estimate of 1:6902 individuals.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fibrosis Quística
/
Frecuencia de los Genes
/
Genes Recesivos
/
Mutación
Tipo de estudio:
Incidence_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Humans
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Hum Biol
Año:
1999
Tipo del documento:
Article
País de afiliación:
Brasil
Pais de publicación:
Estados Unidos