Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75

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...

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Bibliographic Details
Published in:American journal of human genetics 1997-05, Vol.60 (5), p.1122-1127
Main Authors: MACEK, M. JR, MACKOVA, A, HAMOSH, A, HILMAN, B. C, SELDEN, R. F, LUCOTTE, G, FRIEDMAN, K. J, KNOWLES, M. R, ROSENSTEIN, B. J, CUTTING, G. R
Format: Article
Language:English
Subjects:
Adolescent
Adult
Africa
Biological and medical sciences
Black or African American
Black People - genetics
Codon, Terminator
Cystic Fibrosis - diagnosis
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Frameshift Mutation
Gastroenterology. Liver. Pancreas. Abdomen
Genetic Testing
Humans
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
Medical sciences
Mutation
Other diseases. Semiology
Point Mutation
United States
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Summary: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 been reported, to date. In this study, the entire coding and flanking intronic sequence of the CFTR gene was analyzed by denaturing gradient-gel electrophoresis and sequencing in an index group of 82 African-American CF chromosomes to identify mutations. One novel mutation, 3120+1G-->A, occurred with a frequency of 12.3% and was also detected in a native African patient. To establish frequencies, an additional group of 66 African-American CF chromosomes were screened for mutations identified in two or more African-American patients. Screening for 16 "common Caucasian" mutations identified 52% of CF alleles in African-Americans, while screening for 8 "common African" mutations accounted for an additional 23%. The combined detection rate of 75% was comparable to the sensitivity of mutation analysis in Caucasian CF patients. These results indicate that African-Americans have their own set of "common" CF mutations that originate from the native African population. Inclusion of these "common" mutations substantially improves CF mutation detection rates in African-Americans.
ISSN:0002-9297
1537-6605