Linkage analysis in dominant optic atrophy

Autor: J D, Kivlin, E W, Lovrien, D T, Bishop, I H, Maumenee
Rok vydání: 1983
Předmět:
Zdroj: American journal of human genetics. 35(6)
ISSN: 0002-9297
Popis: 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.
Databáze: OpenAIRE