title: Frequency of delta F508 and haplotype association in Austrian cystic fibrosis families.
abstract: The frequency of the major mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene was analyzed for 113 Austrian cystic fibrosis (CF) patients. An overall frequency of 55% for delta F508 was found with values of 72% and 13% for patients with pancreatic insufficiency (CF-PI) and those with pancreatic sufficiency (CF-PS), respectively. Furthermore, the distribution of the alleles of the closely linked DNA markers XV2c/KM19/MP6d-9 in our families is described.
authors.affiliation: Institut für Medizinische Biologie und Humangenetik Universität, Graz, Austria.
authors.forename: K
authors.initials: K
authors.lastname: Wagner
authors.forename: M
authors.initials: M
authors.lastname: Zach
authors.forename: W
authors.initials: W
authors.lastname: Rosenkranz
mesh_terms: D001317:Austria; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: C505032:CFTR protein, human; D005819:Genetic Markers; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator