Cystic fibrosis in Greece: Typing with DNA probes and identification of the common molecular defect

Publisher Website
Google Scholar
Abstract
The relative frequency of the ΔF508 mutation in the Greek population is 54.1%; this is similar to that reported in other Southern European populations and contrasts with the considerably higher frequencies encountered in Northern Europe and North America. The low frequency is in agreement with the linkage disequilibrium already reported between cystic fibrosis and haplotype B in this country. In contrast to the common association of pancreatic insufficiency with the homozygous ΔF508 genotype, the present study revealed two homozygous children with no evidence of pancreatic failure.