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 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.
Handoko
H Y
HY
Eijkman Institute for Molecular Biology, Jakarta, Indonesia.
Wirapati
P J
PJ
Sudoyo
H A
HA
Sitepu
M
M
Marzuki
S
S
D000328:Adult; D019457:Chromosome Breakage; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008540:Meiosis; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D010375:Pedigree; D014960:X Chromosome