First analysis of the F508 deletion in cystic fibrosis patients from the GDR

Hum Genet. 1990 Sep;85(4):406-7. doi: 10.1007/BF02428280.

Abstract

Cystic fibrosis (CF) patients (n = 157) from the GDR were analysed for the occurrence of the recently discovered 3bp deletion causing CF. About 50% of all investigated patients were homozygotes and about 30% heterozygotes for this deletion. Of the analysed CF chromosomes from these patients, 62% carry the deletion, which is in strong linkage disequilibrium with the KM19 restriction fragment length polymorphism allele 2 and the 1/2 XV2c/KM19 haplotype.

MeSH terms

  • Chromosome Deletion
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics*
  • Gene Frequency
  • Germany, West
  • Humans
  • Polymorphism, Restriction Fragment Length