CFTR MUTATIONS IN NORTHERN GREECE. HIGH FREQUENCY OF MUTATION 621+1 (G->T)
Kalogeridis A1,2, Kouvatsi A1, Tsanakas I2
*Corresponding Author: Dr. Anastasia Kouvatsi, Department of Genetics, Development and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, 54006 Thessaloniki, Greece; Tel: +30310- 998361; Fax: +30310-998374; E-mail: akouvats@bio.auth.gr
page: 11

MATERIALS AND METHODS

Samples and DNA analysis. DNA samples from 66 unrelated CF patients were studied. All these patients come from northern Greece (Thrace, Macedonia and Thessaly) and attend the Cystic Fibrosis Unit of the Hippokration General Hospital of Thessaloniki, Thessaloniki, Greece. The geographical origin of the patients was established by assessing the birthplace of each of the patient's parents and grandparents. They were diagnosed by a positive sweat test and typical clinical findings. Genomic DNA was extracted from whole blood by the phenol-chloroform protocol. The DF508 mutation was detected by polymerase chain reaction (PCR) followed by polyacrylamide gel electrophoresis (PAGE). Detection of mutations G551D, R553X, W1282X, N1303K, 621+1 (GT), R334W, 17171 (GA) and E822X [6-12] was carried out by using specific digestion of the PCR products with restriction enzymes (New England Biolabs, Inc., Boston, MA USA).

Dot-blot was used for the analysis of the G542X and R117H mutations by specific labeled radioactive probes [9,13].

Haplotype analysis. The polymorphic extragenic markers Xv-2c/TaqI, KM19/PstI [13], MET-D/BanI-TaqI, MET-H/MspI-TaqI [15], upstream of the CFTR gene, and the intragenic marker M470V/HphI [9], were analyzed in the CF chromosomes of patients carrying the 621+1 (GT) mutation. Furthermore, 40 non-CF chromosomes from unrelated individuals coming from northern Greece, were also analyzed for the same markers.

 

Table 1. Mutation and genotype frequencies identified in the CF patients from northern Greece (Thrace, Macedonia, and Thessaly.

 

 

Table 2. Haplotype frequencies among the 621+1 (GT), DF508 and non-CF chromosomes

 




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