Analysis of the F508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients
Rev. bras. pesqui. méd. biol
; Braz. j. med. biol. res;31(4): 529-32, Apr. 1998. tab
Article
em En
| LILACS
| ID: lil-212417
Biblioteca responsável:
BR1.1
RESUMO
Sixty-one cystic fibrosis patients admitted for check-up or antibiotic tretment were enrolled for genetic and clinical evaluation. Genetic analysis was performed on blood samples stored on neonatal screening cards using PCR techniques to determine the presence of deltaF508 mutations. Clinical evaluation included Shwachman and Chrispin-Norman scores, age at onset of symptoms and diagnosis, spirometry, awake and sleep pulse oximetry, hyponychial angle measurement and presence of chronic Pseudomonas aeruginosa colonization. Eighteen patients (29.5 percent) were homozygous for the deltaF508 mutation, 26 (42.6 percent) had one deltaF508 mutation and 17 (27.9 percent) were noncarriers, corresponding to a 50.8 percent prevalence of the mutation in the whole population. Analysis by the Kruskal-Wallis test for comparison of genetic status with continuous variables or by the chi-square test and logistic regression for dichotomous variables showed no significant differences between any two groups for alpha=0.05. We conclude that genetic status in relation to the deltaF508 mutation is not associated with pulomnary status as evaluated by the above variables.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Fenilalanina
/
Fibrose Cística
/
Homozigoto
/
Pulmão
/
Mutação
Tipo de estudo:
Etiology_studies
/
Observational_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Braz. j. med. biol. res
/
Rev. bras. pesqui. méd. biol
Assunto da revista:
BIOLOGIA
/
MEDICINA
Ano de publicação:
1998
Tipo de documento:
Article
País de publicação:
Brasil