Identification of the cystic fibrosis gene: Chromosome walking and jumping

Johanna M. Rommens*, Michael C. Iannuzzi, Bat Sheva Kerem, Mitchell L. Drumm, Georg Melmer, Michael Dean, Richard Rozmahel, Jeffery L. Cole, Dara Kennedy, Noriko Hidaka, Martha Zsiga, Manuel Buchwald, John R. Riordan, Lap Chee Tsui, Francis S. Collins

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2735 Scopus citations


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.

Original languageAmerican English
Pages (from-to)1059-1065
Number of pages7
Issue number4922
StatePublished - 1989
Externally publishedYes


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