Meiotic breakpoint mapping of a proposed X linked visual loss susceptibility locus in Leber's hereditary optic neuropathy

J Med Genet. 1998 Aug;35(8):668-71. doi: 10.1136/jmg.35.8.668.


Leber's hereditary optic neuropathy (LHON) is a maternally inherited degenerative disorder characterised by an acute or subacute optic nerve degeneration resulting in visual failure. Mitochondrial DNA mutations have been reported and a nuclear modifier gene(s) on the X chromosome is thought to play an important role in the onset of this disorder. We analysed a LHON family with a novel and more accurate approach using 27 X chromosomal microsatellite markers. Meiotic breakpoint mapping and two point lod score did not point to any particular area on the X chromosome which might contain the X susceptibility locus.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Breakage*
  • Chromosome Mapping
  • Female
  • Genetic Linkage*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Meiosis*
  • Optic Atrophies, Hereditary / genetics*
  • Pedigree
  • X Chromosome*