Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis

Hum Genet. 1989 Jun;82(3):203-7. doi: 10.1007/BF00291154.


The maternal inheritance in Leber optic atrophy suggests that it may be caused by a cytoplasmic or mitochondrial defect. However, the strong male bias and the strict tissue specificity can not be readily explained by a single mitochondrial gene defect alone. Wallace suggested a hypothesis that the disease could be the result of an interaction between an X-linked gene and a mitochondrial DNA defect. Linkage relationships between Leber optic atrophy and 15 X-chromosome markers were analyzed in three large Tasmanian families. The results of two-point linkage analysis showed no close linkage between Leber optic atrophy and any of the 15 markers. The results of multipoint linkage analysis suggested the exclusion of the assumed X-linked gene from almost the whole X chromosome in these families.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Humans
  • Male
  • Optic Atrophies, Hereditary / genetics*
  • Pedigree
  • X Chromosome*


  • Genetic Markers