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Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation.

Abstract：

:To initiate the complete characterization of mutations in the CFTR gene in Greek cystic fibrosis (CF) patients, we screened 184 patients for six relatively common mutations (delta F 508, G542X, G551D, 621 + 1 G-->T, N1303K, W1282X) using allele-specific hybridization and, in addition, analyzed exons 4, 5, 7, 8, 10, 11, 17b, 19, 20 and 21 using the method of denaturing gradient gel electrophoresis (DGGE). Six mutations accounted for 65.9% of the CF alleles in Greek patients, of which the delta F 508 mutation had a frequency of 52.7%. A further 15 previously described mutations accounted for another 8.3% CF alleles and one previously undescribed mutation (3272-4A-->G) was found in one chromosome. The W1282X mutation was not detected at all. Thus, so far, we have identified 21 mutations in the CFTR gene in Greek CF patients, accounting for 74.5% of the CF alleles.

journal_name

Hum Genet

journal_title

Human genetics

authors

Kanavakis E,Tzetis M,Antoniadi T,Traeger-Synodinos J,Doudounakis S,Adam G,Matsaniotis N,Kattamis C

doi

10.1007/BF00210426

subject

Has Abstract

pub_date

1995-09-01 00:00:00

pages

364-6

issue

3

eissn

0340-6717

issn

1432-1203

journal_volume

96

pub_type

杂志文章

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