May 2006
Volume 47, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2006
Mapping of an Autosomal Dominant Cataract (ADC) Chilean Family to Chromosome 21q
L.C. Richter; D. Burch; F.R. Barría von Bischhoffshausen; P. Flodman; S. Brown; L. Nguyen; J. Turner; M.A. Spence; J.B. Bateman
Author Affiliations & Notes
  • L.C. Richter
    Ophthalmology/RMLEI, University of Colorado Health Sci Ctr, Aurora, CO
  • D. Burch
    Ophthalmology/RMLEI, University of Colorado Health Sci Ctr, Aurora, CO
  • F.R. Barría von Bischhoffshausen
    Departamento de Oftalmología, Universidad de Concepcíon, Concepcíon, Chile
  • P. Flodman
    Department of Pediatrics, University of California Irvine, Orange, CA
  • S. Brown
    Department of Pediatrics, University of California Irvine, Orange, CA
  • L. Nguyen
    Department of Pediatrics, University of California Irvine, Orange, CA
  • J. Turner
    Ophthalmology/RMLEI, University of Colorado Health Sci Ctr, Aurora, CO
  • M.A. Spence
    Department of Pediatrics, University of California Irvine, Orange, CA
  • J.B. Bateman
    Ophthalmology/RMLEI, University of Colorado Health Sci Ctr, Aurora, CO
    The Children's Hospital, Denver, CO
  • Footnotes
    Commercial Relationships  L.C. Richter, None; D. Burch, None; F.R. Barría von Bischhoffshausen, None; P. Flodman, None; S. Brown, None; L. Nguyen, None; J. Turner, None; M.A. Spence, None; J.B. Bateman, None.
  • Footnotes
    Support  NIH Grant EY08282
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 2521. doi:
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      L.C. Richter, D. Burch, F.R. Barría von Bischhoffshausen, P. Flodman, S. Brown, L. Nguyen, J. Turner, M.A. Spence, J.B. Bateman; Mapping of an Autosomal Dominant Cataract (ADC) Chilean Family to Chromosome 21q . Invest. Ophthalmol. Vis. Sci. 2006;47(13):2521.

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Abstract

Purpose: : To map and identify the gene for autosomal dominant cataracts (ADC) in a large Chilean family.

Methods: : ADC54 is a four–generation Chilean family consisting of 31 individuals with 13 individuals affected with cataracts. Clinically, affected individuals had cataracts with variable morphology (anterior polar, cortical, embryonal, one affected individual had microcornea). SIMLINK analysis was used to estimate the power to detect linkage in ADC54. We screened the family with a panel of polymorphic DNA markers for known ADC loci and the ABI Prism Linkage Mapping Set Version 2.5 using PCR amplifications performed separately for each primer set. The products were resolved on an ABI 373/3100 AVANT using Genemapper 3.5.1 software. Two point lod scores were calculated using LIPED.

Results: : For a tightly–linked marker, we estimated over 1000 simulations that the maximum achievable lod score would be 6.51. We calculated lod scores between the ADC 54 locus and known ADC loci and markers from the ABI Prism Linkage Mapping Set Version 2.5. We calculated lod scores between the ADC54 locus and known ADC loci and markers from the ABI Prism Linkage Mapping Set Version 2.5. Marker D21S266 gave a lod score of 3.76 (theta m=theta f=0), indicating linkage to chromosome 21q.

Conclusions: : Using our ADC screening panel and the ABI Prism Linkage Mapping Set Version 2.5, we found linkage to chromosome 21q. We are currently sequencing the crystallin alpha–A, a candidate gene in the area.

Keywords: cataract • genetics • linkage analysis 
© 2006, 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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