Linkage analysis in dominant optic atrophy.

J D Kivlin; E W Lovrien; D T Bishop; I H Maumenee

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PubMed · 6580816

Linkage analysis in dominant optic atrophy.

J D Kivlin·E W Lovrien·D T Bishop·I H Maumenee

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Abstract

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.

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Chromosome Mapping Chromosomes, Human, 1-3 Female Genes, Dominant Genetic Linkage Genetic Markers Humans Kidd Blood-Group System Lod Score Male Models, Genetic Optic Atrophy Pedigree Recombination, Genetic Journal Article Research Support, U.S. Gov't, P.H.S.

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J D Kivlin, E W Lovrien, D T Bishop, I H Maumenee. 1983. Linkage analysis in dominant optic atrophy.. https://pubmed.ncbi.nlm.nih.gov/6580816/

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