Identification of the Cystic Fibrosis Gene: Genetic Analysis
10.1126/science.2570460
Crossref journal-article
American Association for the Advancement of Science (AAAS)
Science (221)
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.

Bibliography

Kerem, B.-S., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., Buchwald, M., & Tsui, L.-C. (1989). Identification of the Cystic Fibrosis Gene: Genetic Analysis. Science, 245(4922), 1073–1080.

Authors 8
  1. Bat-Sheva Kerem (first)
  2. Johanna M. Rommens (additional)
  3. Janet A. Buchanan (additional)
  4. Danuta Markiewicz (additional)
  5. Tara K. Cox (additional)
  6. Aravinda Chakravarti (additional)
  7. Manuel Buchwald (additional)
  8. Lap-Chee Tsui (additional)
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Dates
Type When
Created 18 years, 10 months ago (Oct. 5, 2006, 5:21 p.m.)
Deposited 1 year, 7 months ago (Jan. 12, 2024, 6:22 p.m.)
Indexed 16 minutes ago (Aug. 25, 2025, 11:07 p.m.)
Issued 35 years, 11 months ago (Sept. 8, 1989)
Published 35 years, 11 months ago (Sept. 8, 1989)
Published Print 35 years, 11 months ago (Sept. 8, 1989)
Funders 0

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@article{Kerem_1989, title={Identification of the Cystic Fibrosis Gene: Genetic Analysis}, volume={245}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.2570460}, DOI={10.1126/science.2570460}, number={4922}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Kerem, Bat-Sheva and Rommens, Johanna M. and Buchanan, Janet A. and Markiewicz, Danuta and Cox, Tara K. and Chakravarti, Aravinda and Buchwald, Manuel and Tsui, Lap-Chee}, year={1989}, month=sep, pages={1073–1080} }