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Letters to Nature

Nature 318, 382-384 (28 November 1985) | doi:10.1038/318382a0; Accepted 6 November 1985

A closely linked genetic marker for cystic fibrosis

Ray White*, Scott Woodward*, Mark Leppert*, Peter O'Connell*, Mark Hoff*, John Herbst, Jean-Marc Lalouel*, Michael Dean & George Vande Woude

  1. *, Howard Hughes Medical Institute and the Cystic Fibrosis Research Center, Department of Human Genetics and Department of Pediatrics, University of Utah College of Medicine, Salt Lake City, Utah 84132, USA
  2. Litton Bionetics, Inc., Basic Research Program, NCI-Frederick Cancer Research Facility, Frederick, Maryland 21701, USA
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Cystic fibrosis is a recessive genetic disorder, characterized clinically by chronic obstructive lung disease, pancreatic insufficiency and elevated sweat electrolytes; affected individuals rarely live past their early twenties. Cystic fibrosis is also one of the most common genetic diseases in the northern European population. The frequency of carriers of mutant alleles in some populations is estimated to be as high as 1 in 20, carrying a concomitant burden of about one affected child in 1,500 births. Because little is known of the essential biochemical defect caused by the mutant gene, a genetic linkage approach based on arbitrary genetic markers and family studies is indicated to determine the chromosomal location of the cystic fibrosis (CF) gene. We have now obtained evidence for tight linkage between the CF locus and a DNA sequence polymorphism at the met oncogene locus. This evidence, combined with the physical localization data for the met locus presented in the accompanying paper1, places the CF locus in the middle third of the long arm of chromosome 7, probably between bands q21 and q31.