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Choroideremia associated with an X-autosomal translocation
V M Siu1, J R Gonder, J H Jung
1Department of Paediatrics, Children's Hospital of Western Ontario, London, Canada.
Human Genetics
|April 1, 1990
Summary
A balanced translocation involving chromosome X was identified in a patient with choroideremia. This finding suggests the choroideremia gene may be located near the X chromosome breakpoint.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Choroideremia is an X-linked inherited eye disease causing progressive vision loss.
- Genetic mutations on the X chromosome are known causes of choroideremia.
Observation:
- A patient with mild choroideremia presented with a balanced translocation between chromosome X and chromosome 13: 46,X,t(X;13)(q21.2;p12).
- Specific X chromosome loci (DXY21, DX232, DX233), previously linked to choroideremia and found deleted in other patients, were intact in this patient's DNA.
Findings:
- This is the first reported case of a translocation associated with choroideremia.
- A derivative chromosome 13, isolated in a somatic cell hybrid, was analyzed.
- The X chromosome breakpoint in this translocation is hypothesized to be near the choroideremia gene locus.
Implications:
- This translocation provides a new tool for studying choroideremia.
- Further analysis could aid in the molecular cloning of the choroideremia gene.
- Understanding the genetic basis of choroideremia can inform diagnostic and therapeutic strategies.