May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Suggestive Linkage of an Autosomal Dominant Cataract Locus (ADC 51) to Chromosome 19q
Author Affiliations & Notes
  • J.L. Turner
    Eleanor Roosevelt Institute, Denver, CO, United States
  • L. Richter
    Eleanor Roosevelt Institute, Denver, CO, United States
  • P. Flodman
    Department of Pediatrics, University of California, Irvine, CA, United States
  • W. Chamberlain
    Department of Opthamology, Rocky Mountain Lions Eye Institute, University of Colorado, Denver, CO, United States
  • F.R. Barría von-Bischhoffshausen
    Departmento de Oftalmología,, Universidad de Concepción, Concepción, Chile
  • M.A. Spence
    Departmento de Oftalmología,, Universidad de Concepción, Concepción, Chile
  • J.B. Bateman
    Departmento de Oftalmología,, Universidad de Concepción, Concepción, Chile
  • Footnotes
    Commercial Relationships  J.L. Turner, None; L. Richter, None; P. Flodman, None; W. Chamberlain, None; F.R. Barría von-Bischhoffshausen, None; M.A. Spence, None; J.B. Bateman, None.
  • Footnotes
    Support  NIH Grant EY08282-09A2
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1261. doi:
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      J.L. Turner, L. Richter, P. Flodman, W. Chamberlain, F.R. Barría von-Bischhoffshausen, M.A. Spence, J.B. Bateman; Suggestive Linkage of an Autosomal Dominant Cataract Locus (ADC 51) to Chromosome 19q . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1261.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: To map and identify the gene for ADC in a large Chilean family. Methods: ADC 51 is a three generation Chilean family with 6 affected individuals. SIMLINK analysis was used to estimate the power to detect linkage in this pedigree. We screened 16 affected and unaffected members with a panel of markers for known ADC loci using PCR amplification performed separately for each primer set. The products were resolved on an ABI 373 using Genescan 2.1 software (Applied Biosystems). Two point LOD scores were calculated using the LIPED. Results: For a tightly linked marker, we estimated that linkage analysis in this family will have 48% power to detect a LOD greater than 2; the maximum LOD score achieved over 1000 simulations was 2.96. We calculated LOD scores between the ADC 51 locus and markers on chromosomes 1, 2, 10, 11, 12, 13, 15, 16, 17, 19, 20, 21, and 22 and excluded all except for chromosome 19 based on lack of evidence of linkage or co-segregation. Markers on chromosome 19 yielded the highest LOD scores of 1.80 for D19s412, 1.52 for D19s223 and 1.52 for D19s178. Conclusions: Using our ADC screening panel, we excluded linkage in this family with markers known to be linked to human ADC except those on chromosome 19. We have demonstrated possible linkage of the locus in the ADC 51 family, the second in our laboratory, to chromosome 19. The ferritin light chain gene on chromosome 19 causes hyperferritinemia and is a candidate gene, as are the lens intrinsic membrane protein 2 (LIM2) and the myotonic dystrophy genes. The clinical features were not typical of hyperferritinemia. We are refining the localization and sequencing candidate genes.

Keywords: cataract • genetics • gene mapping 
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