Introns and exons of the cystic fibrosis gene and mutations thereof

Abstract

PCT No. PCT/CA91/00009 Sec. 371 Date Jul. 13, 1992 Sec. 102(e) Date Jul. 13, 1992 PCT Filed Jan. 11, 1991 PCT Pub. No. WO91/10734 PCT Pub. Date Jul. 25, 1991The identification, isolation and cloning of DNA sequences coding for mutant forms of the cystic fibrosis gene and their gene product are described. DNA sequence information and information relating to the genomic structure of the cystic fibrosis gene are provided. The mutant forms of the CF gene include specific sequence alterations in coding portions or of other genetic information at exon/intron boundaries and altered RNA transcripts and mutant protein products. Such DNA and protein information is useful in developing DNA or protein diagnosis for CF mutations, carrier and patient screening, as well as cloning of mutant genes and manufacturing of their proteins for investigation into therapies for cystic fibrosis.