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.

Keywords

Cystic fibrosisAlleleGeneBiologyGeneticsLocus (genetics)MutantPancreatic diseaseHaplotypePancreasEndocrinology

Affiliated Institutions

Related Publications

Introduction to Quantitative Genetics

Shizhong Xu

Glucagon plays a pivotal role in the development of hyperglycemia in diabetes mellitus. The purpose of this study was to investigate the hypothesis that hyperglucagonemia based ...

2022 Quantitative Genetics 1564 citations

Publication Info

Year
1989
Type
article
Volume
245
Issue
4922
Pages
1073-1080
Citations
4099
Access
Closed

External Links

View on DOI.org

Social Impact

Altmetric
PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

4099
OpenAlex

Cite This

Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan et al. (1989). Identification of the Cystic Fibrosis Gene: Genetic Analysis. Science , 245 (4922) , 1073-1080. https://doi.org/10.1126/science.2570460

Identifiers

DOI
10.1126/science.2570460