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| INCREASED INCIDENCE OF CYSTIC-FIBROSIS GENE-MUTATIONS IN ADULTS WITH DISSEMINATED BRONCHIECTASIS |
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| Author(s): PIGNATTI PF, BOMBIERI C, MARIGO C, BENETAZZO M, LUISETTI M |
| Source: HUMAN MOLECULAR GENETICS Volume: 4 Issue: 4 Pages: 635-639 Published: APR 1995 |
| Times Cited: 104 References: 31 |
| Abstract: In 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: PIGNATTI, PF (reprint author), UNIV VERONA, SCH MED, INST BIOL & GENET, I-37134 VERONA, ITALY |
Addresses:
1. UNIV PAVIA, IRCCS, SAN MATEO HOSP, INST RESP DIS, I-27100 PAVIA, ITALY |
| Publisher: OXFORD UNIV PRESS UNITED KINGDOM, WALTON ST JOURNALS DEPT, OXFORD, ENGLAND OX2 6DP |
| Subject Category: Biochemistry & Molecular Biology; Genetics & Heredity |
| IDS Number: QV814 |
| ISSN: 0964-6906 |
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