Analysis of the DF508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients

• Autor(a) principal: Maróstica,P.J.C.
• Data de Publicação: 1998
• Outros Autores: Raskin,S., Abreu-e-Silva,F.A.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Brazilian Journal of Medical and Biological Research
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000400009
• topic: cystic fibrosis; <FONT FACE=Symbol>D</font>F508 gene mutation; genotype; phenotype

Sixty-one cystic fibrosis patients admitted for check-up or antibiotic treatment 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 <FONT FACE="Symbol">D</font>F508 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%) were homozygous for the <FONT FACE="Symbol">D</font>F508 mutation, 26 (42.6%) had one <FONT FACE="Symbol">D</font>F508 mutation and 17 (27.9%) were noncarriers, corresponding to a 50.8% 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 <FONT FACE="Symbol">a</font> = 0.05. We conclude that genetic status in relation to the <FONT FACE="Symbol">D</font>F508 mutation is not associated with pulmonary status as evaluated by the above variables