Linkage analysis in dominant optic atrophy.
A kindred of German descent was studied for dominant optic atrophy, type Kjer (McKusick catalog no. 16540). One hundred twenty-three family members were examined clinically, and 36 affected, 81 normal, and six uncertain members were ascertained. Twenty-seven markers were analyzed for 121 members. The maximum lod score obtained was 2.0 at theta = .18 for linkage between the Kidd locus and dominant optic atrophy. Twenty-eight offspring were informative with 2-generation data. There was insufficient information for the acid phosphatase locus to aid gene localization. These data suggest that the locus for dominant optic atrophy is on chromosome 2.
D002874:Chromosome Mapping; D002900:Chromosomes, Human, 1-3; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007667:Kidd Blood-Group System / Q000235:genetics; D008126:Lod Score; D008297:Male; D008957:Models, Genetic; D009896:Optic Atrophy / Q000235:genetics*; D010375:Pedigree; D011995:Recombination, Genetic
D005819:Genetic Markers; D007667:Kidd Blood-Group System