Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy
- Institute of Neurology, Queen Square, London (United Kingdom)
- Clinica Neurologica, Messina (Italy)
Leber hereditary optic neuropathy (LHON) is associated with mutations of mtDNA, but two features of LHON pedigrees are not explicable solely on the basis of mitochondrial inheritance. There is a large excess of affected males, and not all males at risk develop the disease. These observations could be explained by the existence of an X-linked visual loss susceptibility gene. This hypothesis was supported by linkage studies in Finland, placing the susceptibility locus at DXS7, with a maximum lod score of 2.48 at a recombination fraction of 0. Linkage studies in 1 Italian and 12 British families with LHON, analyzed either together or separately depending on the associated mtDNA mutation, have excluded the presence of such a locus from an interval of about 30 cM around DXS7 in these kindreds, with a total lod score of -26.51 at a recombination fraction of 0. 17 refs., 2 figs., 1 tab.
- OSTI ID:
- 5105166
- Journal Information:
- American Journal of Human Genetics; (United States), Vol. 51:4; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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EYES
HEREDITARY DISEASES
HUMAN X CHROMOSOME
GENETIC MAPPING
MITOCHONDRIA
GENE MUTATIONS
SEX DEPENDENCE
BODY
BODY AREAS
CELL CONSTITUENTS
CHROMOSOMES
DISEASES
FACE
HEAD
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
MAPPING
MUTATIONS
ORGANS
SENSE ORGANS
X CHROMOSOME
550400* - Genetics