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Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.

Clinical genetics - 1 May 2003

Kanavakis E, Efthymiadou A, Strofalis S, Doudounakis S, Traeger-Synodinos J, Tzetis M

Abstract excerpt

Cystic fibrosis (CF) mutation analysis on 437 CF patients, characterized 80 different mutations (20 so far specific to our population) accounting for 91% of CF genes and generating 103 different genotypes. Eight mutations were common [F508del (53.4%), 621+1G>T (5.7%), G542X (3.9%), N1303K (2.6%), 2789+5G>A (1.7%), 2183AA>G (1.4%), E822X (1.4%), R1158X (1%)], 12 showed frequencies between 0.5% and 1%, while the...

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PMID: 12752573
DOI: 10.1034/j.1399-0004.2003.00067.x

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