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V Berry, AM Reddy, P Francis, A Moore, SS Bhattacharya; A novel locus for a Posterior Polar Cataract on the Long Arm of Chromosome 10 . Invest. Ophthalmol. Vis. Sci. 2002;43(13):480.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose:To genetically map a three generation family of English descent with autosomal dominant congenital posterior polar cataract Methods:17 members of a family (7 affected and 6 unaffected) with dominant congenital posterior polar cataract were ascertained. Ethical committee approval and informed consent was obtained from all participants. A full clinical examination was performed, pedigree data collated and leukocyte DNA extracted from venous blood for subsequent molecular genetic analysis. Linkage analysis by PCR-based microsatellite marker genotyping was used to identify the disease locus. Results:After excluding all known loci for congenital cataract a provisional linkage was obtained in this family to chromosome 10. Conclusion:Preliminary data is suggestive of linkage to the long arm of chromosome 10. Refinment of the linked region is underway.
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