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.

Cystic fibrosis in Greece: typing with DNA probes and identification of the common molecular defect / A., Balassopoulou; D., Loukopoulos; P., Kollia; Devoto, Marcella; G., Adam; S., Arvanitakis; H., Hadjisevastou. - In: HUMAN GENETICS. - ISSN 0340-6717. - 85:4(1990).

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

DEVOTO, MARCELLA;
1990

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.
1990
01 Pubblicazione su rivista::01a Articolo in rivista
Cystic fibrosis in Greece: typing with DNA probes and identification of the common molecular defect / A., Balassopoulou; D., Loukopoulos; P., Kollia; Devoto, Marcella; G., Adam; S., Arvanitakis; H., Hadjisevastou. - In: HUMAN GENETICS. - ISSN 0340-6717. - 85:4(1990).
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/497395
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