Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping

Johanna M. Rommens(Hospital for Sick Children), Michael C. Iannuzzi(Howard Hughes Medical Institute), Bat-Sheva Kerem(Hospital for Sick Children), Mitchell L. Drumm(Howard Hughes Medical Institute), Georg Melmer(Hospital for Sick Children), Michael Dean(National Institutes of Health), Richard Rozmahel(Hospital for Sick Children), Jeffery L. Cole(Howard Hughes Medical Institute), Dara Kennedy(Hospital for Sick Children), Noriko Hidaka(Howard Hughes Medical Institute), M. Zsiga(Hospital for Sick Children), Manuel Buchwald(University of Toronto), Lap‐Chee Tsui(University of Toronto), John R. Riordan(University of Toronto), Francis S. Collins(Howard Hughes Medical Institute)
Science
September 8, 1989
Cited by 3,237

Abstract

An understanding of the basic defect in the inherited disorder cystic fibrosis requires cloning of the cystic fibrosis gene and definition of its protein product. In the absence of direct functional information, chromosomal map position is a guide for locating the gene. Chromosome walking and jumping and complementary DNA hybridization were used to isolate DNA sequences, encompassing more than 500,000 base pairs, from the cystic fibrosis region on the long arm of human chromosome 7. Several transcribed sequences and conserved segments were identified in this cloned region. One of these corresponds to the cystic fibrosis gene and spans approximately 250,000 base pairs of genomic DNA.


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