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Linkage studies of Best's macular dystrophy
F E Yoder1, H E Cross, G A Chase
1Department of Diagnostic Science, Medical University of South Carolina, Charleston.
Clinical Genetics
|July 1, 1988
Summary
Genetic linkage studies in Best's vitelliform macular dystrophy (BVMD) did not find a strong link to 18 markers. Further research is needed to determine if BVMD and atypical VMD-1 are the same genetic disorder.
Area of Science:
- Ophthalmology
- Medical Genetics
- Molecular Biology
Background:
- Best's vitelliform macular dystrophy (BVMD) is an autosomal dominant retinal disorder.
- BVMD exhibits reduced penetrance and variable expressivity, complicating genetic analysis.
- Identifying asymptomatic carriers is crucial for understanding disease inheritance patterns.
Purpose of the Study:
- To perform genetic linkage studies in nine kindreds with BVMD.
- To investigate the genetic basis of BVMD and its relationship to other forms of vitelliform macular dystrophy.
- To identify potential genetic markers associated with BVMD.
Main Methods:
- Collected blood and saliva from family members across nine kindreds.
- Genotyped 26 polymorphic genetic traits in informative family members.
- Utilized electro-oculography, fundus photography, and fluorescein angiography to identify carriers.
Main Results:
- No significant linkage was found between BVMD and 18 informative genetic markers.
- The highest lod score (z=0.57) was observed for GPT1 at a recombination fraction of 0.30.
- Atypical VMD-1 showed linkage to GPT1, suggesting a potential distinction from BVMD.
Conclusions:
- Current data do not exclude loose linkage between BVMD and GPT1.
- The allelic relationship between BVMD and VMD-1 remains undetermined.
- Further gene mapping studies are necessary to differentiate these macular dystrophy forms.