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

Milan Macek, Alice Mackova, Ada Hamosh, Bettina C. Hilman, Robert F. Selden, Gerard Lucotte, Kenneth J. Friedman, Michael R. Knowles, Beryl J. Rosenstein, Garry R. Cutting

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)1122-1127
Number of pages6
JournalAmerican journal of human genetics
Issue number5
StatePublished - 1997

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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