A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

Nat Genet. 1993 Aug;4(4):346-50. doi: 10.1038/ng0893-346.


Hirschsprung disease (HSCR) is a frequent congenital disorder (1 in 5,000 newborns) of unknown origin characterized by the absence of parasympathetic intrinsic ganglion cells of the hindgut. Taking advantage of a proximal deletion of chromosome 10q (del 10q11.2-q21.2) in a patient with total colonic aganglionosis, and of a high-density genetic map of microsatellite DNA markers, we performed genetic linkage analysis in 15 non-syndromic long-segment and short-segment HSCR families. Multipoint linkage analysis indicated that the most likely location for a HSCR locus is between loci D10S208 and D10S196, suggesting that a dominant gene for HSCR maps to 10q11.2, a region to which other neural crest defects have been mapped.

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 10*
  • DNA, Satellite / genetics
  • Family
  • Female
  • Genetic Linkage
  • Genotype
  • Hirschsprung Disease / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Oligodeoxyribonucleotides
  • Pedigree
  • Polymerase Chain Reaction / methods


  • DNA, Satellite
  • Oligodeoxyribonucleotides