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Linkage analysis in dominant optic atrophy.

J D Kivlin, E W Lovrien, D T Bishop

American Journal of Human Genetics

|November 1, 1983

Summary

This summary is machine-generated.

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Researchers investigated dominant optic atrophy in a German family, identifying a potential genetic link. This study suggests the gene responsible for dominant optic atrophy is located on chromosome 2.

Area of Science:

Genetics
Ophthalmology
Human Disease

Background:

Dominant optic atrophy, Kjer type (McKusick catalog no. 16540), is an inherited condition affecting vision.
Understanding the genetic basis of dominant optic atrophy is crucial for diagnosis and potential therapies.

Purpose of the Study:

To determine the genetic locus for dominant optic atrophy within a specific kindred.
To investigate linkage between known genetic markers and dominant optic atrophy.

Main Methods:

Clinical examination of 123 family members to ascertain affected, normal, and uncertain individuals.
Genetic analysis of 27 markers across 121 family members.
Lod score analysis to assess linkage between markers and the disease phenotype.

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Main Results:

A maximum lod score of 2.0 was achieved at a recombination fraction of 0.18 for linkage between the Kidd locus and dominant optic atrophy.
Data for the acid phosphatase locus were insufficient for gene localization.
Analysis of 28 informative offspring provided 2-generation data.

Conclusions:

The findings suggest that the gene responsible for dominant optic atrophy in this kindred is located on chromosome 2.
The Kidd locus shows potential linkage to dominant optic atrophy, warranting further investigation.