title: Localization of the gene for amiloride binding protein on chromosome 7 and RFLP analysis in cystic fibrosis families.
abstract: The apical sodium channel is essential for sodium reabsorption by the kidney. Its activity is blocked by the diuretic amiloride. Using a human cDNA coding for the amiloride binding protein (ABP), the corresponding structural gene was mapped to human chromosome 7q34-q36 by in situ hybridization. This region flanks the region implicated in cystic fibrosis (7q32). Because an alteration of the amiloride sensitive sodium channel function has been suggested in cystic fibrosis, a possible link between the ABP gene and this disease was analyzed by restriction fragments length polymorphism (RFLP) analyses. From this study, it appears that the gene coding for ABP is not directly modified by mutations causing cystic fibrosis.
authors.affiliation: Institut de Pharmacologie Moléculaire et Cellulaire, UPR 411 CNRS, Valbonne, France.
authors.forename: P
authors.initials: P
authors.lastname: Barbry
authors.forename: B
authors.initials: B
authors.lastname: Simon-Bouy
authors.forename: M G
authors.initials: MG
authors.lastname: Mattéi
authors.forename: E
authors.initials: E
authors.lastname: Le Guern
authors.forename: B
authors.initials: B
authors.lastname: Jaume-Roig
authors.forename: O
authors.initials: O
authors.lastname: Chassande
authors.forename: A
authors.initials: A
authors.lastname: Ullrich
authors.forename: M
authors.initials: M
authors.lastname: Lazdunski
mesh_terms: D006631:Amine Oxidase (Copper-Containing); D002352:Carrier Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D010375:Pedigree
chemical_list: D002352:Carrier Proteins; D006631:Amine Oxidase (Copper-Containing); C065976:AOC1 protein, human