High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis
| Autor: | Aslıhan Tolun, Dadlý E, Vasiliki Ninidu Ninis, Kýlýnç Mo, Kandemir M |
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| Rok vydání: | 2003 |
| Předmět: |
Male
medicine.medical_specialty Adolescent Genotype DNA Mutational Analysis Cystic Fibrosis Transmembrane Conductance Regulator Gene mutation medicine.disease_cause Cystic fibrosis Gene Frequency Molecular genetics Genetics medicine Humans Allele Child Genetics (clinical) Mutation Bronchiectasis biology Heterozygote advantage DNA medicine.disease Cystic fibrosis transmembrane conductance regulator Retraction Haplotypes Immunology biology.protein Female Letter to JMG |
| Zdroj: | Journal of Medical Genetics. 40:530-535 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.40.7.530 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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