title: Identification of the cystic fibrosis gene: genetic analysis.
abstract: Approximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific deletion of three base pairs, which results in the loss of a phenylalanine residue at amino acid position 508 of the putative product of the cystic fibrosis gene. Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations. A small set of these latter mutant alleles (about 8 percent) may confer residual pancreatic exocrine function in a subgroup of patients who are pancreatic sufficient. The ability to detect mutations in the cystic fibrosis gene at the DNA level has important implications for genetic diagnosis.
authors.affiliation: Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: B
authors.initials: B
authors.lastname: Kerem
authors.forename: J M
authors.initials: JM
authors.lastname: Rommens
authors.forename: J A
authors.initials: JA
authors.lastname: Buchanan
authors.forename: D
authors.initials: D
authors.lastname: Markiewicz
authors.forename: T K
authors.initials: TK
authors.lastname: Cox
authors.forename: A
authors.initials: A
authors.lastname: Chakravarti
authors.forename: M
authors.initials: M
authors.lastname: Buchwald
authors.forename: L C
authors.initials: LC
authors.lastname: Tsui
mesh_terms: D000483:Alleles; D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005808:Genes, Recessive; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D010179:Pancreas / Q000201:enzymology; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D005819:Genetic Markers