Cystic fibrosis mutations among African Americans in the southeastern United States.
Year: 1995
Type: article
Study design: Observational Study
Abstract: Since the cloning of the cystic fibrosis (CF) gene and the identification of delta F508, the most common CF mutation, screening the general population for CF has been vigorously debated. Adding to the controversy is the question of whether screening should be offered to African Americans, whose incidence of CF (1/17,000) is much lower than that of whites (1/2500). We tested for five common mutations (delta F508, G551D, G542X, R553X, and N1303K) in order to determine the frequency of common mutations in African Americans with CF from the southeastern United States. delta F508 was found on 50% of CF chromosomes; 46% of CF mutations were undetermined mutations. Our data indicate that at the current detection rate, the sensitivity of CF screening in African Americans would be appreciably lower than that of whites, and thus their inclusion in screening programs probably would not be warranted.
Source: PubMed
Authors: O P Phillips, C Bishop, D Woods, S Elias
Institution: University of Tennessee Health Science Center
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W141304248