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High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis
  1. V N Ninis1,
  2. M O Kýlýnç1,*,
  3. M Kandemir2,
  4. E Daðlý2,
  5. A Tolun1
  1. 1Department of Molecular Biology and Genetics, Boðaziçi University, Istanbul, Turkey
  2. 2Department of Paediatrics, Marmara University Hospital, Istanbul, Turkey
  1. Correspondence to:
 Dr A Tolun, Department of Molecular Biology and Genetics, Boðaziçi University, Bebek, Istanbul 34342, Turkey; 

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Obstructive pulmonary disease is an important health problem in all populations, and bronchiectasis of unknown aetiology (idiopathic bronchiectasis, IB) contributes significantly to the disease. The gene responsible for cystic fibrosis (CF), the cystic fibrosis transmembrane regulator (CFTR), was shown to have a role in the manifestation of IB, as gene mutations and a significantly high proportion of allele T5 of the polythymidine tract (Tn) in intron 8 (IVS8) have been observed in patients.1–5 However, the complex genetic basis of the phenotype expression of IB remains largely unknown. CFTR mutations alone cannot be held responsible for the disease, as obligate CFTR mutation heterozygotes were shown not to have an increased risk for IB.6 The CFTR gene seems to act in a multifactorial context, as both the mutations and polymorphic alleles exert their effects in an incompletely penetrant fashion. Therefore, environmental factors and/or other genes are believed to contribute to the disease. IB is only one of the several single organ diseases to which the CFTR gene contributes. Some other such diseases are asthma,7 obstructive azoospermia,8–11 allergic bronchopulmonary aspergillosis,12 and idiopathic chronic pancreatitis.13,14

Key points

  • We performed genetic analysis at the CFTR locus in 73 unrelated Turkish families affected with idiopathic bronchiectasis. Twenty-eight of the unrelated affected children were found to carry mutations, six of them on both CFTR chromosomes.

  • We detected a total of nine different mutations in 34 of the 146 alleles (23.3%). The most frequent mutation was K68E, which we had previously identified as a rare novel mutation in a CF patient. The spectrum of mutations was very different from those observed in our CF patients. Also, the spectrum of polymorphic alleles was different from both the Turkish CF patients and the normal population.

  • Frequencies of alleles T5 and …

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  • * Present address: School of Medicine, University of Louisville, Kentucky, USA

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