Identification of the cystic fibrosis gene: Genetic analysis

Bat Sheva Kerem*, Johanna M. Rommens, Janet A. Buchanan, Danuta Markiewicz, Tara K. Cox, Aravinda Chakravarti, Manuel Buchwald, Lap Chee Tsui

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3492 Scopus citations


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.

Original languageAmerican English
Pages (from-to)1073-1080
Number of pages8
Issue number4922
StatePublished - 1989
Externally publishedYes


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