Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation.
Leber's hereditary optic neuropathy (LHON), which is associated with mutations in mitochondrial DNA (mtDNA), is commoner in males than females. A study of over 30 LHON families with a mutation at position 3460 of mtDNA demonstrates a significantly decreased male excess from that generally quoted, with evidence for a marked bias in the ascertainment of males over females. This has implications for the analysis of those factors which give rise to the male bias.
D000328:Adult; D000368:Aged; D015982:Bias; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D012737:Sex Factors
D004272:DNA, Mitochondrial