Identification of the Cystic Fibrosis Gene: Genetic Analysis

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

doi:10.1126/science.2570460

Cited by 4,142Cystic Fibrosis Research AdvancesGenetic and Kidney Cyst DiseasesGenetic Associations and Epidemiology

Identification of the Cystic Fibrosis Gene: Genetic Analysis

Kerem, Bat-Sheva, Rommens, Johanna M., Buchanan, Janet A., Markiewicz, Danuta, Cox, Tara K., Chakravarti, Aravinda, Buchwald, Manuel, Tsui, Lap-Chee·1989·Science

DOI 10.1126/science.2570460

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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.

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LD mapping proved useful in fine-mapping the founder Δ508 mutation in CFTR as a cause of cystic fibrosis and in screening the entire genome in isolated populations such as Finland.
“This method soon proved useful in fine-mapping the founder Δ508 mutation in the transmembrane conductance regulator CFTR as a cause of cystic fibrosis (40) and in screening the entire genome in isolated populations such as Finland (41).”
From Genetic Mapping in Human Disease (2008) · cites this paper as [40]

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Authors: Kerem, B.-S., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., Buchwald, M., & Tsui, L.-C.
Affiliations: Hospital for Sick Children (CA)
University of Pittsburgh (US)
University of Toronto (CA)
ORCID: Rommens, Johanna M.
Chakravarti, Aravinda
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 1989-09-08
Volume: 245
Issue: 4922
Pages: 1073-1080
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.2570460
OpenAlex: W2125391335
Cited by: 4,142
References: 77
Citations by year: 2026: 33 · 2025: 51 · 2024: 51 · 2023: 74 · 2022: 68 · 2021: 108 · 2020: 112 · 2019: 90 · 2018: 89 · 2017: 100 · 2016: 94 · 2015: 110 · 2014: 92 · 2013: 107 · 2012: 145
FWCI: 341.68
Type: journal article
Language: en
Open access: closed
Locations: Science (publishedVersion)
PubMed (publishedVersion)
The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
Funders: National Institute of General Medical Sciences (GM 33771)
National Institute of Diabetes and Digestive and Kidney Diseases (DK 34944)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD00774)
Topics: Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: cystic fibrosis, cystic fibrosis transmembrane conductance regulator, CFTR gene, F508del mutation, haplotype analysis, genetic diagnosis, pancreatic exocrine function, mutant allele, genetic linkage markers
MeSH terms: Alleles, Chromosome Deletion, Cystic Fibrosis, DNA Mutational Analysis, Genes, Recessive, Genetic Markers, Haplotypes, Humans, Genetic Linkage, Pancreas, Polymorphism, Restriction Fragment Length

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Identification of the Cystic Fibrosis Gene: Genetic Analysis

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