title: Genotyping of the Spanish cystic fibrosis population at the delta F508 mutation site and RFLP linked loci.
abstract: Spanish families (n = 75) with at least one affected cystic fibrosis (CF) child were typed for restriction fragment length polymorphisms (RFLPs) by the probes XV2c, KM19, and pMP6d-9. These families were also studied at the 508 mutation site by the polymerase chain reaction method. We have studied the linkage disequilibrium between these markers and the CF mutations, the probable number of independent secondary CFX (non-delta F508) mutations, and the genetic differences between Spain and Western Europe.
authors.affiliation: Unité 73, Institut National de la Santé et de la Recherche Médicale, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Jaume-Roig
authors.forename: B
authors.initials: B
authors.lastname: Simon-Bouy
authors.forename: A
authors.initials: A
authors.lastname: Taillandier
authors.forename: J L
authors.initials: JL
authors.lastname: Serre
authors.forename: J
authors.initials: J
authors.lastname: Antich
authors.forename: J
authors.initials: J
authors.lastname: Bellon
authors.forename: J
authors.initials: J
authors.lastname: Boué
authors.forename: A
authors.initials: A
authors.lastname: Boué
mesh_terms: D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length