Cystic fibrosis mutations and adult bronch1ectasis

P. T. King, K. Forshaw

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    Adult patients who have longstanding bronchiectasis usually have no clear predisposing factor for their condition. It has been suggested in a number of publications, that such patients may have; i) occult cystic fibrosis or, ii) an increased incidence of heterozygosity for CF mutations '. AIM: To test a large group of adult bronchiectatics for the presence of cystic fibrosis gene mutations. PATIENT GROUP: 73 patients (50 female, 23 male), aged 64±13 yrs (mean±SD) were tested. All patients had longstanding severe symptoms with confirmation of their bronchiectasis on CT scan. METHODS: Peripheral blood samples were taken from each subject. DNA was isolated using Lysate or DNA preparation. Using polymerase chain reaction (PCR), the DNA samples were then analysed for mutations. The samples were initially tested for AF508 mutations (which accounts for 70% of cystic fibrosis in Victoria). All the samples are also being analysed for 11 other CF mutations. RESULTS: All 73 samples have been tested for AF508 mutations. There were no homozygotes. 2 of the subjects were hétérozygotes, which was the expected level in the community (incidence of 4%). CONCLUSION: This group of adult bronchiectatics do not have an increased incidence of AF508 mutations.

    Original languageEnglish
    Issue numberSUPPL. 1
    Publication statusPublished - 1 Dec 2001


    • AF508
    • Bronchiectasis
    • Cystic fibrosis
    • Gene mutations

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