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

• Main Authors: Maróstica P.J.C., Raskin S., Abreu-e-Silva F.A.
• Format: Article
• Language: English
• Published: Associação Brasileira de Divulgação Científica 1998-01-01
• Series: Brazilian Journal of Medical and Biological Research
• Subjects: cystic fibrosis; <FONT FACE=Symbol>D</font>F508 gene mutation; genotype; phenotype
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000400009
• ISSN: 0100-879X; 0034-7310

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