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April 8, 1998

Screening for Cystic Fibrosis

Author Affiliations

Margaret A.WinkerMD, Senior EditorIndividualAuthorPhil B.FontanarosaMD, Senior EditorIndividualAuthor

JAMA. 1998;279(14):1068-1069. doi:10-1001/pubs.JAMA-ISSN-0098-7484-279-14-jac80003

To the Editor.—Cystic fibrosis is the most common serious recessive genetic disorder in white populations. Since the gene responsible for CF and its most common mutation were found in 1989, more than 700 additional mutations have been identified. DNA-based screening, with a panel of the 70 most frequent mutations, now identifies 90% of the heterozygotes in general white populations and 97% of the heterozygotes who have predominant Ashkenazi ancestry. However, this same panel detects considerably fewer of the mutations causing CF in African Americans and Asian Americans.

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