© 2003 BMJ Publishing Group
LETTER TO JMG
High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis
V N Ninis1,
M O K
lnç1,*,
M Kandemir2,
E Daðl2,
A Tolun1
1 Department of Molecular Biology and Genetics, Boðaziçi University, Istanbul, Turkey
2 Department of Paediatrics, Marmara University Hospital, Istanbul, Turkey
Correspondence to:
Correspondence to:
Dr A Tolun, Department of Molecular Biology and Genetics, Boðaziçi University, Bebek, Istanbul 34342, Turkey;
tolun@boun.edu.tr
Keywords: bronchiectasis; IB; CFTR; Turkish
| The first 150 words of the full text of this article appear below. |
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
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