The gene for Darier's disease maps between D12S78 and D12S79

Hum Mol Genet. 1994 Jan;3(1):35-8. doi: 10.1093/hmg/3.1.35.

Abstract

Darier's disease is a dominantly inherited skin disorder in which there is abnormal adhesion between keratinocytes. We and others have recently mapped the disease gene to chromosome 12q23-q 24.1. In the present study we have established that the disease gene lies between the loci D12S78 and D12S79 which are 12cM apart. We have also obtained direct evidence that the disease is unlikely to result from a mutation in one of the members of the keratin gene cluster on chromosome 12q.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 12*
  • DNA / blood
  • DNA / genetics
  • DNA / isolation & purification
  • DNA, Satellite / genetics
  • Darier Disease / genetics*
  • Deoxyribonucleases, Type II Site-Specific
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Keratins / genetics*
  • Male
  • Multigene Family*
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Recombination, Genetic

Substances

  • DNA, Satellite
  • Genetic Markers
  • Keratins
  • DNA
  • endodeoxyribonuclease MaeIII
  • Deoxyribonucleases, Type II Site-Specific