{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T22:18:56Z","timestamp":1774563536872,"version":"3.50.1"},"reference-count":32,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,12]]},"abstract":"<jats:p>We have found records of 1014 Irish cystic fibrosis patients alive by December 1994, belonging to 883 families. Prevalence in the population is 1\/3475 and incidence at birth 1\/1461, with a gene frequency of 2.6%. Twenty percent of the patients are aged over 20 years, but at present survival rate falls rapidly after that age. We have identified 85% of the mutations on the CFTR gene in a sample of 29% of the families (506 CF chromosomes). Mutation delta F508 is found in 72% of Irish CF chromosomes, G551D in 6.9%, and R117H in 2%. These are the highest frequencies reported for the latter two mutations world wide. Another seven mutations are found in an additional 4% of CF families. We present new microsatellite haplotype data that could be useful for genetic counselling of CF families bearing some of the 15% of CF mutations still unidentified, and comment on possible uses of our database.<\/jats:p>","DOI":"10.1136\/jmg.32.12.972","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"972-975","source":"Crossref","is-referenced-by-count":16,"title":["The Irish cystic fibrosis database."],"prefix":"10.1136","volume":"32","author":[{"given":"S M","family":"Cashman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Patino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M G","family":"Delgado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Byrne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Denham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"De Arce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,12,1]]},"reference":[{"key":"ref_1","first-page":"247","article-title":"The prevalence of coeliac disease and cystic fibrosis in Ireland, Scotland, England and Wales. 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Microsatellite haplotypes for cystic fibrosis; mutation frameworks and evolutionary tracers. Hum Molec Genet 1993;2: 1015-22.","journal-title":"Hum Molec Genet"},{"key":"ref_8","first-page":"462","article-title":"CFTR mutations in 124 Northern Irish CF families","volume":"95","year":"1995","unstructured":"CFTR mutations in 124 Northern Irish CF families. Hunm Genet 1995;95:462-4.","journal-title":"Hunm Genet"},{"key":"ref_9","first-page":"165","article-title":"The origin of the major cystic fibrosis mutation (AF508) in European populations","volume":"7","author":"Morral, N.; Bertranpetit, J.; Estivill, X.","year":"1994","unstructured":"Morral N, Bertranpetit J, Estivill X, et al. The origin of the major cystic fibrosis mutation (AF508) in European populations. 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Amt J Hum Genet 1989;44:319-26.","journal-title":"Amt J Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.32.12.972","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:44:51Z","timestamp":1759686291000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.32.12.972"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,12]]},"references-count":32,"journal-issue":{"issue":"12","published-online":{"date-parts":[[1995,12,1]]},"published-print":{"date-parts":[[1995,12]]}},"alternative-id":["10.1136\/jmg.32.12.972"],"URL":"https:\/\/doi.org\/10.1136\/jmg.32.12.972","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,12]]}}}