{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:40:12Z","timestamp":1760722812032,"version":"build-2065373602"},"reference-count":10,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,1]]},"abstract":"<jats:p>The clinical symptoms of a cohort of cystic fibrosis patients were related to their genotypes using RFLPs shown with MspI and the closely linked DNA marker MP6d-9. In the majority of CF chromosomes, the restriction site for MspI was present, and the genotype 2\/2 was found most often in patients who were severely affected by the disease. The genotype 1\/2 was significantly over-represented in patients with very mild clinical manifestations, including pancreatic sufficiency, absence of meconium ileus, and absence of Pseudomonas colonisation. When pancreatic dysfunction was present, the 1\/2 genotype was associated with a mild form, while the 2\/2 genotype was found in patients with severe insufficiency. None of our patients had the 1\/1 genotype. These results indicate that the newly isolated MP6d-9 marker correlates with some important symptoms of cystic fibrosis.<\/jats:p>","DOI":"10.1136\/jmg.27.1.17","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"17-20","source":"Crossref","is-referenced-by-count":9,"title":["The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis."],"prefix":"10.1136","volume":"27","author":[{"given":"P","family":"Gasparini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X","family":"Estivill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Olivieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Savoia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Ruzzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Nunes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Borgo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Antonelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Williamson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,1,1]]},"reference":[{"key":"ref_1","article-title":"Mendelian inheritance in man","author":"McKusick, V.A.","year":"1988","unstructured":"McKusick VA. 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Linkage disequilibrium for DNA haplotypes near the cvstic fibrosis locus with two South European populations. Hum Genet 1989;83:175-8.","journal-title":"Hum Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1542\/peds.23.3.545","article-title":"A test for concentration of electrolvtes in sweat in cystic fibrosis of pancreas utilizing pilocarpine bv iontophoresis","volume":"23","author":"Gibson, L.E.; Cooke, R.E.","year":"1959","unstructured":"Gibson LE, Cooke RE. A test for concentration of electrolvtes in sweat in cystic fibrosis of pancreas utilizing pilocarpine bv iontophoresis. Pediatrics 1959;23:545-51.","journal-title":"Pediatrics"},{"key":"ref_9","first-page":"23","article-title":"Linkage disequilibrium between cystic fibrosis and linked polymorphic DNA markers in Italian families: a collaborative study","volume":"43","author":"Estivill, X.; Farrall, M.; Williamson, R.","year":"1988","unstructured":"Estivill X, Farrall M, Williamson R, et al. Linkage disequilibrium between cystic fibrosis and linked polymorphic DNA markers in Italian families: a collaborative study. Am 7 Hum Genet 1988;43:23-8. 13' Ferrari M, Antonelli M, Bellini F, et al. Genetic differences in icynsstuifcficfiiebnrcosyi-san patients with and without Italian collaborative study. Hum pancreatic Genet (in press).","journal-title":"Am 7 Hum Genet; Genetic differences in icynsstuifcficfiiebnrcosyi-san patients with and without Italian collaborative study. Hum pancreatic Genet"},{"key":"ref_10","first-page":"38","article-title":"Refined linkage map of chromosome 7 in the region of thecystic fibrosis gene. Am]7 Hum Genet","volume":"42","author":"Lathrop, G.M.; Farrall, M.; O'Connell, P.","year":"1988","unstructured":"Lathrop GM, Farrall M, O'Connell P, et al. Refined linkage map of chromosome 7 in the region of thecystic fibrosis gene. 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