ABCMdb

PMID: 7544320

Kanavakis E, Tzetis M, Antoniadi T, Traeger-Synodinos J, Doudounakis S, Adam G, Matsaniotis N, Kattamis C
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.
Hum Genet. 1995 Sep;96(3):364-6., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCC7 p.Gly551Asp ABCC7 p.Gly542* Hum Genet (1995) 96:364-366 9 Springer-Verlag 1995 Emmanuel Kanavakis 9Maria Tzetis 9Thalia Antoniadi Joanne Traeger-Synodinos - Stavros Doudounakis George Adam 9Nikos Matsaniotis 9Christos Kattamis 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 Received: 15 November 1994 / Revised: 20 February 1995 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 (zXF 508, G542X, G551D, 621+1 G-)T, N 1303K, W 1282X) 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). Login to comment 3 ABCC7 p.Trp1282* The W1282X mutation was not detected at all. Login to comment 10 ABCC7 p.Gly551Asp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Allele-specific hybridization (ASO) The regions encompassing the mutations of interest (AF 508, G542X, G551D, 621+1 G ~ T, N1303K and WI282X) were amplified by the polymerase chain reaction (PCR) as described in Zielenski et al. (1991). Login to comment 15 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Results and discussion Studies in southern European populations disclosed that the most frequent CF alleles are AF 508, G542X, G551 D, Fig. 1 Sequencing of the region of the cystic fibrosis transmembrane conductance regulator (CFTR)gene showing the A---~Gtran- sition in intron 17a, 4 bp 5" to the acceptor splice site (3272-4A--*G) 621+1 G-+T, W1282X, and N1303K (Tsui 1992; Abeliovich et al. 1992; Casals et al. 1993; Kazazian 1994). Login to comment 26 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1158* ABCC7 p.Arg1070Gln ABCC7 p.Trp361Arg (ASO allele-specific hybridization, DGGE denaturing gradient gel electrophoresis, Seq direct genomic sequencing) Mutation Method Number of Percentage positive alleles AF 508 621+lG---~T G542X N1303K Rll7H R334W 574delA 3272-26A---~G R1158X 1677delTA R1070Q G551D G 1244V R553X 444delA 3849+4A---)G 457-TAT--)G 4010delTATT 4040delA W361R 3272-4A--)Ga Known Unknown Total number alleles ASO, DGGE ASO, DGGE ASO, DGGE ASO, DGGE DGGE, Seq DGGE, Seq DGGE, Seq DGGE, Seq DGGE, Seq DGGE DGGE, Seq ASO, DGGE DGGE, Sec DGGE, Sec DGGE, Sec DGGE, Sec DGGE, Sec DGGE, Sec DGGE, Sec DGGE, Sec DGGE, Sec 194 52.7 17 4.6 16 4.3 14 3.8 4 1.1 4 1.1 3 0.8 3 0.8 3 0.8 3 0.8 2 0.5 2 0.5 1 0.3 1 O.3 1 0.3 1 0.3 1 0.3 1 0.3 1 0.3 1 0.3 1 0.3 274 74.5% 94 25.5% 368 aNovel mRNA splicing mutations Acknowledgements This work was supported by the Greek Ministry of Health, the Hellenic Cystic Fibrosis Association and the Bodosakis Foundation. Login to comment