Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping

作者：Johanna M. Rommens, Michael C. Iannuzzi, Bat-Sheva Kerem, Mitchell L. Drumm, Georg Melmer, Michael C. Dean, Richard F. Rozmahel, Jeffery L. Cole, Dara Kennedy, Noriko Hidaka, M. Zsiga, Manuel Buchwald, Lap‐Chee Tsui, John R. Riordan, Francis S. Collins · 发表于：Science · 年份：1989 · DOI：10.1126/science.2772657 · 被引用次数：3265 · 研究领域：Cystic Fibrosis Research Advances、Congenital Ear and Nasal Anomalies、Advanced biosensing and bioanalysis techniques

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.