Article
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.
American journal of human genetics - 1 May 1997
Macek M, Mackova A, Hamosh A, Hilman B C, Selden R F, Lucotte G, Friedman K J, Knowles M R, Rosenstein B J, Cutting G R
Abstract excerpt
Cystic fibrosis (CF)--an autosomal recessive disorder caused by mutations in CF transmembrane conductance regulator (CFTR) and characterized by abnormal chloride conduction across epithelial membranes, leading to chronic lung and exocrine pancreatic disease--is less common in African-Americans than in Caucasians. No large-scale studies of mutation identification and screening in African-American CF patients have...
Topics
- Adolescent
- Adult
- Africa
- Black People
- Codon, Terminator
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Frameshift Mutation
- Genetic Testing
- Humans