title: delta F508 deletion in cystic fibrosis in Italian families.
abstract: In 20 Italian families with cystic fibrosis (CF), restriction fragment length polymorphisms were detected by five linked markers; a strong linkage disequilibrium is observed between the haplotype B (alleles 2/1 with respect to KM19/XV2c) and CF. The frequency of the delta F508 deletion in CF chromosomes of this sample is 50%. A significant correlation is found between the absence of the delta F508 mutation and pancreatic sufficiency.
authors.affiliation: Dipartimento di Genetica, Università di Torino, Turin, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Restagno
authors.forename: S
authors.initials: S
authors.lastname: Garnerone
authors.forename: C
authors.initials: C
authors.lastname: Gennaro
authors.forename: O
authors.initials: O
authors.lastname: Varetto
authors.forename: N
authors.initials: N
authors.lastname: Ansaldi
authors.forename: D
authors.initials: D
authors.lastname: Castello
authors.forename: B
authors.initials: B
authors.lastname: Santini
authors.forename: A O
authors.initials: AO
authors.lastname: Carbonara
mesh_terms: D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D007558:Italy / Q000453:epidemiology; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length