Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

Nature. 1986 Jul;322(6074):32-8. doi: 10.1038/322032a0.


The gene that is abnormal in the X-linked form of the phagocytic disorder chronic granulomatous disease has been cloned without reference to a specific protein by relying on its chromosomal map position. The transcript of the gene is expressed in the phagocytic lineage of haematopoietic cells and is absent or structurally abnormal in four patients with the disorder. The nucleotide sequence of complementary DNA clones predicts a polypeptide of at least 468 amino acids with no homology to proteins described previously.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Deletion
  • Chromosome Mapping*
  • Cloning, Molecular*
  • DNA / analysis
  • Gene Expression Regulation
  • Granulomatous Disease, Chronic / genetics*
  • Humans
  • Leukemia, Myeloid, Acute / genetics
  • RNA / analysis
  • Tissue Distribution
  • Transcription, Genetic


  • RNA
  • DNA

Associated data

  • GENBANK/X04011