IDENTIFICATION OF 6 NOVEL MUTATIONS IN THE CFTR GENE OF PATIENTS FROMBULGARIA BY SCREENING THE 27 EXONS AND EXON INTRON BOUNDARIES USING DGGE AND DIRECT DNA-SEQUENCING/

The CFTR gene, in which more than 300 mutations have been described, d isplays a spectrum of mutations which varies according to ethnic and g eographic origin of patients. In this paper we report an exhaustive st udy of the 27 exons and exon/intron boundaries of a sample of 35 CF pa tients from Bulgaria which is situated in the south east of Europe. We have used denaturing gradient gel electrophoresis assay followed by D NA sequencing and we report the identification of six previously undes cribed CFTR alleles.