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September 22, 1989

Capture of Elusive Cystic Fibrosis Gene Prompts New Approaches to Treatment

JAMA. 1989;262(12):1567-1573. doi:10.1001/jama.1989.03430120017005

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THE MOST EXHAUSTIVE gene hunt in the history of molecular medicine came to an end September 8 with the publication of the identity of the cystic fibrosis (CF) gene (Science. 1989; 245:1059-1080).

The isolation of the gene brought not only knowledge of the function of the protein for which it codes, but an indication of promising new avenues to therapy. "These are exciting times," says Robert Beall, PhD, executive vice president of the Cystic Fibrosis Foundation.

Francis Collins, MD, of the University of Michigan in Ann Arbor, and Lap-Chee Tsui, MD, and Michael Riordan, MD, of the Hospital for Sick Children in Toronto, Canada, and colleagues identified the gene as a fragment of DNA 250 000 base-pairs long near the center of the long arm of chromosome 7. The gene codes for a protein comprising 1480 amino acids, which has been dubbed the cystic fibrosis transmembrane conductance regulator (CFTR).