December 2002
Volume 43, Issue 13
Free
ARVO Annual Meeting Abstract  |   December 2002
A novel locus for a Posterior Polar Cataract on the Long Arm of Chromosome 10
V Berry; AM Reddy; P Francis; A Moore; SS Bhattacharya
Author Affiliations & Notes
  • V Berry
    Molecular Genetics Institute of Ophthalmology London United Kingdom
  • AM Reddy
    Molecular Genetics Institute of Ophthalmology London United Kingdom
  • P Francis
    Moorfields Eye Hospital London United Kingdom
  • A Moore
    Institute of Ophthalmology Moorfields Eye Hospital London United Kingdom
  • SS Bhattacharya
    Molecular Genetics Institute of Ophthalmology London United Kingdom
  • Footnotes
    Commercial Relationships   V. Berry, None; A.M. Reddy, None; P. Francis, None; A. Moore, None; S.S. Bhattacharya, None. Grant Identification: Wellcome Trust 063969/Z/01
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 480. doi:
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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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Abstract

Abstract: : 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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© 2002, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
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