May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Congenital microcoria gene:Linkage homogeneity to locus 13q31–32
G. Kumaramanickavel; S. Sripriya; V.L. Ramprasad; G.J. Ronnie; A. Hemamalini; S. Saxena; L. Vijaya
Author Affiliations & Notes
  • G. Kumaramanickavel
    Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India
  • S. Sripriya
    Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India
  • V.L. Ramprasad
    Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India
  • G.J. Ronnie
    Glaucoma, Medical Research Foundation, Sankara Nethralaya, Chennai, India
  • A. Hemamalini
    Glaucoma, Medical Research Foundation, Sankara Nethralaya, Chennai, India
  • S. Saxena
    Department of Ophthalmology, King George Medical College, Lucknow, India
  • L. Vijaya
    Glaucoma, Medical Research Foundation, Sankara Nethralaya, Chennai, India
  • Footnotes
    Commercial Relationships  G. Kumaramanickavel, None; S. Sripriya, None; V.L. Ramprasad, None; G.J. Ronnie, None; A. Hemamalini, None; S. Saxena, None; L. Vijaya, None.
  • Footnotes
    Support  Supoort: Chennai Wellingdon Corporate Foundation, Chennai, India
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 4757. doi:
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      G. Kumaramanickavel, S. Sripriya, V.L. Ramprasad, G.J. Ronnie, A. Hemamalini, S. Saxena, L. Vijaya; Congenital microcoria gene:Linkage homogeneity to locus 13q31–32 . Invest. Ophthalmol. Vis. Sci. 2004;45(13):4757.

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Abstract

Abstract: : Purpose: Congenital microcoria is an autosomal dominant developmental disorder of the iris, associated with myopia and juvenile open angle glaucoma. In a French family it was linked to chromosome 13. An Asian Indian three generation 16 member affected family with congenital microcoria was studied for gene mapping. Methods: Twenty four members of the family were clinically examined and DNA was extracted. Fluorescent microsatellite markers in the region13q31–32 were PCR amplified and analyzed using GeneScan in ABI Prism 310 genetic analyzer. Alleles were genotyped and two point linkage analysis was performed using MLINK/ILINK programs. Results: A Zmax of 2.18 (&#952=0.06) was obtained for the marker D13S265. On fine mapping with higher density markers a Zmax of 4.25 (&#952=0.01) was obtained for the DCT dinucleotide repeat marker (Allele set GDB ID: 381742) in 13q31–32 region. Conclusion:Congenital microcoria gene is located in the chromosomal region 13q31–32 in an Indian family, establishing homogeneity of the locus. Candidate gene screening is in progress.

Keywords: linkage analysis • genetics • gene mapping 
© 2004, 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.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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