SINGLE-STRANDED CONFORMATION POLYMORPHISM ANALYSIS OF THE CFTR GENE IN SLOVENIAN CYSTIC-FIBROSIS PATIENTS - DETECTION OF MUTATIONS AND SEQUENCE VARIATIONS

Cystic fibrosis (CF) mutations have been identified in Slovenian CF pa tients using single-stranded conformation polymorphism (SSCP) analysis . The entire coding region and all of the splice junction sites were s creened in 24 patients. By varying the electrophoretic conditions and composition of the gel, 16 different nucleotide changes have been obse rved in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Three newly described mutations and four previously reported mu tations were found. In addition two new polymorphisms have been identi fied. Of 35 non-DELTAF508 chromosomes examined, mutations were detecte d on 25.7%, raising the proportion of Slovenian CF alleles characteriz ed to 67.5%. Because of the high sensitivity of the SSCP technique mos t of the remaining uncharacterized CF mutations probably lie in large introns, promoter sequences, or putative regulatory regions not yet an alyzed. (C) 1993 Wiley-Liss, Inc.