Frequency of delta F508 and haplotype association in Austrian cystic fibrosis families.
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.
Wagner
K
K
Institut für Medizinische Biologie und Humangenetik Universität, Graz, Austria.
Zach
M
M
Rosenkranz
W
W
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
C505032:CFTR protein, human; D005819:Genetic Markers; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator