Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping

  • Johanna M. Rommens
    Department of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada.
  • Michael C. Iannuzzi
    Howard Hughes Medical Institute and Departments of Internal Medicine and Human Genetics, University of Michigan, Ann Arbor, MI 48109.
  • Bat-Sheva Kerem
    Department of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada.
  • Mitchell L. Drumm
    Howard Hughes Medical Institute and Departments of Internal Medicine and Human Genetics, University of Michigan, Ann Arbor, MI 48109.
  • Georg Melmer
    Department of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada.
  • Michael Dean
    Program Resources, Inc., Frederick Cancer Research Facility, Frederick, MD 21701.
  • Richard Rozmahel
    Department of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada.
  • Jeffery L. Cole
    Howard Hughes Medical Institute and Departments of Internal Medicine and Human Genetics, University of Michigan, Ann Arbor, MI 48109.
  • Dara Kennedy
    Department of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada.
  • Noriko Hidaka
    Howard Hughes Medical Institute and Departments of Internal Medicine and Human Genetics, University of Michigan, Ann Arbor, MI 48109.
  • Martha Zsiga
    Department of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada.
  • Manuel Buchwald
    Department of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada.
  • Lap-Chee Tsui
    Department of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada.
  • John R. Riordan
    Department of Biochemistry, Research Institute, The Hospital for Sick Children, Toronto, and the Departments of Biochemistry and Clinical Biochemistry, University of Toronto, Toronto M5S 1A8, Canada.
  • Francis S. Collins
    Howard Hughes Medical Institute and Departments of Internal Medicine and Human Genetics, University of Michigan, Ann Arbor, MI 48109.

抄録

<jats:p>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.</jats:p>

収録刊行物

  • Science

    Science 245 (4922), 1059-1065, 1989-09-08

    American Association for the Advancement of Science (AAAS)

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