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Literature DB >> 6580816

Linkage analysis in dominant optic atrophy.

J D Kivlin, E W Lovrien, D T Bishop, I H Maumenee.

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.

Entities: Disease Gene

Mesh：

Substances：

Year: 1983 PMID： 6580816 PMCID： PMC1685968

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

7 in total

Linkage analysis in dominant optic atrophy.

1. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families.

2. Sequential tests for the detection of linkage.

3. Similarities between congenital tritan defects and dominant optic-nerve atrophy: coincidence or identity?

4. Hereditary optic atrophies in childhood.

Review 5. Report of the committee on the genetic constitution of chromosomes 2, 3, 4, and 5.

6. [Linkage studies in infantile optic atrophy with a dominant mode of inheritance].

7. Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy.

Review 1. Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.

2. The Kidd (JK) blood group locus assigned to chromosome 18 by close linkage to a DNA-RFLP.

3. Mitochondrial retention of Opa1 is required for mouse embryogenesis.

Review 4. A review of primary hereditary optic neuropathies.

5. A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family.

6. Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.

Review 7. Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics.