1,720,998 research outputs found
The search for susceptibility genes of COPD.
No full textEnvironmental factors, such as cigarette smoking, outdoor and indoor pollution, and childhood respiratory infections, are believed to play a major role as risk factors for developing chronic obstructive pulmonary disease (COPD). The only confirmed genetic risk factor for COPD is the inherited deficiency of alpha 1-proteinase inhibitor. However, the evidence of familial clustering of lung function and COPD occurrence and the development of COPD among susceptible smokers, at variance with the so-called resistant smokers, would suggest that the weight of genetic risk factors is greater than recognized. In this paper the role of candidate genes for increasing the risk of COPD (such as alpha 1-proteinase inhibitor, alpha 1-antichymotrypsin, cystic fibrosis transmembrane conductance regulator, and others) is reviewed
Genetics of idiopathic disseminated bronchiectasis
No full textBronchiectasis is an abnormal dilation of bronchi, consequent to the destruction of their walls. It is included in the category of obstructive pulmonary diseases, along with chronic obstructive pulmonary disease (COPD), asthma, and cystic fibrosis. In approximately 50% of cases, bronchiectasis is associated with underlying conditions; in the remainder, known causes are not ascertainable (idiopathic bronchiectasis). A search for genetic determinants of this phenotype, with the cystic fibrosis gene as a candidate, has been performed by three independent groups. The results of this search agreed on the association of bronchiectasis with cystic fibrosis gene mutations and polymorphisms. The cystic fibrosis gene is also associated with bronchiectasis due to rheumatoid arthritis and allergic bronchopulmonary aspergillosis. A few other genes have been investigated in idiopathic bronchiectasis, with negative results. Idiopathic bronchiectasis is, therefore, to be considered as an obstructive multifactorial disorder belonging to the category of cystic fibrosis monosymptomatic diseases (or CFTR-opathies), whose pathogenesis is influenced by environmental factors and other undetermined genes
Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis [letter; comment]
No full text
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease.
No full textIn order to determine the possible role of the cystic fibrosis transmembrane regulator (CFTR) gene in pulmonary diseases not due to cystic fibrosis, a complete screening of the CFTR gene was performed in 120 Italian patients with disseminated bronchiectasis of unknown cause (DBE), chronic bronchitis (CB), pulmonary emphysema (E), lung cancer (LC), sarcoidosis (S) and other forms of pulmonary disease. The 27 exons of the CFTR gene and their intronic flanking regions were analyzed by denaturing gradient gel electrophoresis and automatic sequencing. Mutations were detected in 11/23 DBE (P = 0.009), 7/25 E, 5/27 CB, 5/26 LC, 5/8 S (P = 0.013), 1/4 tuberculosis, and 1/5 pneumonia patients, and in 5/33 controls. Moreover, the IVS8-5T allele was detected in 6/25 E patients (P = 0.038). Four new mutations were identified: D651N, 2377C/T, E826K, and P1072L. These results confirm the involvement of the CFTR gene in disseminated bronchiectasis of unknown origin, and suggest a possible role for CFTR gene mutations in sarcoidosis, and for the 5T allele in pulmonary emphysema
"Cystic fibrosis: the deltaF508 mutation does not lead to an exceptionally severe phenotype. A cohort study"
No full textIncreased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.
No full textIn order to identify a possible hereditary predisposition to the development of obstructive pulmonary disease of unknown origin, we have looked for the presence of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations in unrelated patients with no signs of Cystic Fibrosis (CF). We screened for 70 common mutations, and also for rare mutations by denaturing gradient gel electrophoresis analysis. In this search, different CFTR gene mutations (R75Q, delta F508, R1066C, M1137V and 3667ins4) were found in five out of 16 adult Italian patients with disseminated bronchiectasis, a significant increase over the expected frequency of carriers. Moreover, three rare CFTR gene DNA polymorphisms (G576A, R668C, and 2736 A-->G), not deemed to be the cause of CF, were found in two patients, one of which was a compound heterozygote with R1066C. These results indicate that CFTR gene mutations, and perhaps also DNA polymorphisms, may be involved in the etiopathogenesis of at least some cases of bronchiectasis
"A comparative analysis of different membranes in DNA transfer and hybridization procedures"
No full text"Homozygosity for a novel splice site mutation (2790-2 A-G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of north-east Italian descent"
No full text"Nine cystic fibrosis patients homozygous for CFTR nonsense mutation R1162X have a mild or moderate lung disease"
No full text- …
