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

✍ Scribed by C. D. Constantinou-Deltas; Christina Georgiou; Panos Ioannou; Michael Angastiniotis; Elena Aristodemou

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 245 KB
Volume: 1
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380010609

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✦ Synopsis

Cystic fibrosis (CF) is an autosomal recessive disorder which is considered to be the most frequent genetic disorder in the Caucasian population. In a large number of populations tested it is found in an average frequency of 1 CF chromosome per 25 individuals, resulting in a patient frequency of 1:2,500 live births. The prevalence, however, ranges from 1:1,800 to approximately 1: 8,000. Much lower or much higher frequencies occur in a few populations. In Greece it is estimated to be 1:3,000 (Boat et al., 1989).

📜 SIMILAR VOLUMES

Cystic fibrosis patients with mutation 1

Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotes

✍ V. Nunes; T. Casals; A. Gaona; G. Antiñolo; J. Ferrer-Calvete; J. Pérez-Frias; E 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 437 KB

The majority of the identified cystic fibrosis (CF) mutations are very uncommon in the total patient population, making the correlation between the clinical presentation and the molecular alterations difficult. The largest deletion that has been described so far in C F is of 84 bp in exon 13, which