title: The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis.
abstract: 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.
authors.affiliation: Istituto di Scienze Biologiche, Università di Verona, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: D
authors.initials: D
authors.lastname: Olivieri
authors.forename: A
authors.initials: A
authors.lastname: Savoia
authors.forename: A
authors.initials: A
authors.lastname: Ruzzo
authors.forename: V
authors.initials: V
authors.lastname: Nunes
authors.forename: G
authors.initials: G
authors.lastname: Borgo
authors.forename: M
authors.initials: M
authors.lastname: Antonelli
authors.forename: R
authors.initials: R
authors.lastname: Williamson
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D005819:Genetic Markers