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Letters to Nature
Nature 318, 380 - 382 (28 November 1985); doi:10.1038/318380a0

A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7

Robert G. Knowlton*, Odile Cohen-Haguenauer, Nguyen Van Cong, Jean Frézal, Valerie A. Brown*, David Barker*, Jeffrey C. Braman*, James W. Schumm*, Lap-Chee Tsui, Manuel Buchwald & Helen Donis-Keller*

*Department of Human Genetics, Collaborative Research, Inc., 128 Spring St., Lexington, Massachusetts 02173, USA
Unité de Recherches de Génétique Médicale (INSERM U12), Hôpital des Enfants Malades, 149 rue de Sèvres, F-75743 Paris,Cedex 15, France
Department of Genetics, The Hospital for Sick Children, and Department of Medical Genetics and Medical Biophysics, University of Toronto, Toronto, Ontario, Canada M5S 1A1

Although cystic fibrosis (CF) is among the most common inherited diseases in Caucasian populations1, the basic biochemical defect is not yet known. CF is inherited as an autosomal recessive trait apparently due to mutations in a single gene2–4, whence the efforts made to identify the genetic locus responsible by linkage studies. Two markers have recently been identified that are genetically linked to CF: one is a genetic variation in serum level of activity of the enzyme paraoxonase5, and the other is a restriction fragment length polymorphism (RFLP) identified with a randomly isolated DNA probe4. We report here that the genetic locus DOCRI-917 defined by the cloned DNA probe is located on chromosome 7.

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