May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Genome-Wide Linkage Analysis of Cynomolgus Monkey Pedigree With Early-Onset Macular Degeneration
Author Affiliations & Notes
  • A. Seki
    National Institute of Sensory Organs, National Tokyo Medical Center, Meguro-ku, Japan
  • T. Yoshida
    National Institute of Sensory Organs, National Tokyo Medical Center, Meguro-ku, Japan
  • S. Umeda
    National Institute of Sensory Organs, National Tokyo Medical Center, Meguro-ku, Japan
  • M. T. Suzuki
    The Corporation for Production and Research of Laboratory Primates, Tsukuba-city, Japan
  • K. Terao
    Tsukuba Primate Research Center, National Institute of Biomedical Innovation, Tsukuba-city, Japan
  • Y. Yoshikawa
    Department of Biomedical Science, Graduate School of Agricultural and Life Sciences, the University of Tokyo, Bunkyo-ku, Japan
  • T. Iwata
    National Institute of Sensory Organs, National Tokyo Medical Center, Meguro-ku, Japan
  • Footnotes
    Commercial Relationships  A. Seki, None; T. Yoshida, None; S. Umeda, None; M.T. Suzuki, None; K. Terao, None; Y. Yoshikawa, None; T. Iwata, None.
  • Footnotes
    Support  Ministry of Health, Labour and Welfare of Japan
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 2975. doi:https://doi.org/
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    • Get Citation

      A. Seki, T. Yoshida, S. Umeda, M. T. Suzuki, K. Terao, Y. Yoshikawa, T. Iwata; Genome-Wide Linkage Analysis of Cynomolgus Monkey Pedigree With Early-Onset Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2975. doi: https://doi.org/.

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

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Abstract

Purpose: : We have previously reported a cynomolgus (Macaca fascicularis) pedigree with early-onset macular degeneration. These monkeys show cardinal features of age-related macular degeneration in human such as pigmentary disorders and/or drusen-like spots at two years after birth (Umeda et al., 2005) and ERG abnormality. The mutation analysis of five known locus for human macular dystrophy resulted with no association. Here we report a genome-wide linkage survey to identify loci associated with macular degeneration in monkey pedigree

Methods: : Chromosomal DNA was isolated from blood collected from 32 affected and 32 unaffected monkeys. Using fluorescence labeled primer pairs previously reported to be useful for whole-genome linkage screens in rhesus macaque (Macaca mulatta) (Rogers et al., 2006), 122 microsatellite markers were amplified by PCR and separated by electrophoresis using 3130xl Genetic Analyzer (ABI) for fragment analysis using GeneMapper software (ABI). Ten out of twenty Macaca fascicularis chromosomes 1, 2, 4, 5, 7, 9, 12, 13, 14, 16 homologous to chromosome 1, 3, 6, 4, 14, 10, 2, 2, 11, 17 of human were covered in this survey.

Results: : Several alleles near linkage marker D6S503 (human 6q27) showed strong association among affected monkeys. This loci is located on the telomere and over far apart from previously reported loci D6S1036 (human 6q14-15) for Macaca mulatta with drusen (Singh et al., 2005).

Conclusions: : Genome-wide linkage scan suggests an association of locus on chromosome 4 (human 6q27) with the early-onset macular degeneration in Macaca fascicularis pedigree.

Keywords: retinal degenerations: hereditary • linkage analysis • drusen 
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