May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
A Novel Locus for Glaucoma Is Suggested By Genetic Exclusion of the Six POAG Loci in a Three–Generation Peruvian Family
R.A. Perez–Grossmann; M.L. Guevara–Fujita; C. Murga–Zamalloa; W. Castillo–Herrera; J.E. Richards; R. Fujita
Author Affiliations & Notes
  • R.A. Perez–Grossmann
    Glaucoma, Instituto de Glaucoma y Catarata, Miraflores, Peru
  • M.L. Guevara–Fujita
    Instituto de Genética y Biología Molecular, Universidad de San Martin de Porres, Lima, Peru
  • C. Murga–Zamalloa
    Instituto de Genética y Biología Molecular, Universidad de San Martin de Porres, Lima, Peru
  • W. Castillo–Herrera
    Instituto de Genética y Biología Molecular, Universidad de San Martin de Porres, Lima, Peru
  • J.E. Richards
    Kellogg Eye Center, University of Michigan, Michigan, MI
  • R. Fujita
    Instituto de Genética y Biología Molecular, Universidad de San Martin de Porres, Lima, Peru
  • Footnotes
    Commercial Relationships  R.A. Perez–Grossmann, None; M.L. Guevara–Fujita, None; C. Murga–Zamalloa, None; W. Castillo–Herrera, None; J.E. Richards, None; R. Fujita, None.
  • Footnotes
    Support  Consejo Nacional de Ciencia y Tecnología del Perú (CONCYTEC), Universidad de San Martín Funds
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 40. doi:
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      R.A. Perez–Grossmann, M.L. Guevara–Fujita, C. Murga–Zamalloa, W. Castillo–Herrera, J.E. Richards, R. Fujita; A Novel Locus for Glaucoma Is Suggested By Genetic Exclusion of the Six POAG Loci in a Three–Generation Peruvian Family . Invest. Ophthalmol. Vis. Sci. 2005;46(13):40.

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Abstract

Abstract: : Purpose: To characterize at the genetic and molecular level a three–generation glaucoma family from Peru. Methods: We studied a three–generation glaucoma family with 12 affected individuals (10 alive) having high intraocular pressure, and several age–matched normal relatives from south of Lima, Perú. After proper informed consent, blood samples were collected and the DNA was extracted. PCR was performed for flanking and internal markers microsatellite markers from the six known glaucoma loci that harbour genes for POAG. The resulting haplotypes were inspected to establish cosegregation. On the other hand, patient DNA samples were sequenced for the 2 identified POAG genes (TIGR/MYOC and OPTN). Results: Microsatellite analyses revealed recombination for all marker of the the six POAG loci. Sequencing of the two POAG genes revealed no causative mutation in affected members of the family. Conclusions: This Peruvian three–generation POAG family, carry a novel gene for glaucoma, different from the six previously known loci.

Keywords: gene mapping • genetics • linkage analysis 
© 2005, 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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