Investigation of Genes Linked to Congenital Cataract
Author Information
Author(s): Burdon Kathryn P., Hattersley Kathryn, Lachke Salil A., Laurie Kate J., Maas Richard L., Mackey David A., Craig Jamie E.
Primary Institution: Flinders University
Hypothesis
To identify the causative gene for autosomal dominant total congenital cataract in a six-generation Australian family displaying linkage to chromosome 1p36.
Conclusion
Coding mutations in the selected candidate genes do not account for congenital cataract in this family.
Supporting Evidence
- No segregating mutations were identified in any of the eight genes.
- Thirty-one polymorphisms were detected, 20 of which were in the exons.
- The study involved a six-generation family with total congenital cataract.
Takeaway
The researchers looked at eight genes to see if they caused cataracts in a family, but they didn't find any mutations that would explain the condition.
Methodology
The coding exons of eight candidate genes were sequenced in multiple affected family members and compared to the reference sequence.
Limitations
Regulatory mutations have not been ruled out as a cause of congenital cataract.
Participant Demographics
Six-generation Australian family with total congenital cataract.
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