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

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...

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Bibliographic Details
Published in:	Journal of medical genetics Vol. 35; no. 8; pp. 668 - 671
Main Authors:	Handoko, H Y, Wirapati, P J, Sudoyo, H A, Sitepu, M, Marzuki, S
Format:	Journal Article
Language:	English
Published:	London BMJ Publishing Group Ltd 01-08-1998 BMJ BMJ Publishing Group LTD
Subjects:	Adult Biological and medical sciences Chromosome Breakage Chromosome Mapping Diseases of visual field, optic nerve, optic chiasma and optic tracts Female Genetic Linkage Genetic Predisposition to Disease - genetics Humans Male Medical sciences Meiosis Ophthalmology Optic Atrophies, Hereditary - genetics Pedigree X Chromosome Genetic mapping Human Nervous system diseases Linkage Family study Pathogenesis Likelihood ratio Mitochondrial DNA Genetic determinism Genetic disease Eye disease Chromosome break Cranial nerve disease Predisposition Leber optic neuropathy X-Chromosome
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Summary:	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.
Bibliography:	PMID:9719375 local:jmedgenet;35/8/668 ark:/67375/NVC-425677C7-C istex:61A02EF4282F2260618EA05C9350A54960622844 href:jmedgenet-35-668.pdf ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.35.8.668