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

Abstract

The relative frequency of the delta F508 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 delta F508 genotype, the present study revealed two homozygous children with no evidence of pancreatic failure.

Prevalence of malnutrition and obesity among cystic fibrosis patients

“…According to the Cystic Fibrosis Mutation Database more than 1900 mutations have been described to date . F508del accounts for 70% of the cases worldwide and for 52–54% of CF cases in Greece . The mutation disrupts the function of chloride channels leading to production of thick mucous secretions in several glands and organs.…”

“…2 F508del accounts for 70% of the cases worldwide 3 and for 52-54% of CF cases in Greece. 4 The mutation disrupts the function of chloride channels leading to production of thick mucous secretions in several glands and organs. As a result, the parenchyma of the pancreas is destroyed, leading to pancreatic insufficiency (PI) and subsequent malabsorption syndrome and malnutrition.…”

ΔF508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus

“…In Greece, 54% of CF chromosomes are AF508, which means that 1 of approximately 110 chromosomes carries the AF508 mutation (Balassopoulou et al, 1990).…”

“…We considered this frequency of the AF508 deletion and also of CF in general, very low in view of the fact that the Greek-Cypriot population is of Caucasian origin, and more specifically of Greek ethnic origin to a significant extent. In Greece, 54% of CF chromosomes are AF508, which means that 1 of approximately 110 chromosomes carries the AF508 mutation (Balassopoulou et al, 1990).…”

Novel cystic fibrosis mutation associated with mild disease in Cypriot patients

“…It can be seen that each of the two mutations in the probands was inherited from a different parent. Also shown is that the sister of 4457 in family 2801 (4460), is heterozygous for L346P population (Constantinou-Deltas et al 1992), whereas in mainland Greece one expects 1 AF508 chromosome in 110 (Balassopoulou et al 1990). One specific problem that might explain misdiagnosis or some cases being missed, is the improper method in use for performing the sweat test (Gibson and Cooke 1959).…”