May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Screening of HEMICENTIN–1 in age–related macular degeneration
Author Affiliations & Notes
  • J.P. Marion
    Bascom Palmer Eye Institute, University of Miami School of Medicine, Miami, FL
  • S. Dubovy
    Bascom Palmer Eye Institute, University of Miami School of Medicine, Miami, FL
  • I. Scott
    Bascom Palmer Eye Institute, University of Miami School of Medicine, Miami, FL
  • M. Lewis
    Bascom Palmer Eye Institute, University of Miami School of Medicine, Miami, FL
  • G. Inana
    Bascom Palmer Eye Institute, University of Miami School of Medicine, Miami, FL
  • Footnotes
    Commercial Relationships  J.P. Marion, None; S. Dubovy, None; I. Scott, None; M. Lewis, None; G. Inana, None.
  • Footnotes
    Support  Foundation Fighting Blindness, Research to Prevent Blindness
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 1813. doi:
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    • Get Citation

      J.P. Marion, S. Dubovy, I. Scott, M. Lewis, G. Inana; Screening of HEMICENTIN–1 in age–related macular degeneration . Invest. Ophthalmol. Vis. Sci. 2004;45(13):1813.

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

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Abstract

Abstract: : Purpose: Age–related macular degeneration (AMD) affects central vision and is a leading cause of blindness in the elderly. AMD is a late–onset, complex eye disease. It is thought to involve a change in a number of genes, as opposed to just one gene. Due to the complex nature of AMD, the etiology of the disease has not been elucidated yet. A number of candidate genes has been suggested to play a causative role in AMD. One such gene, HEMICENTIN–1 (FIBULIN–6), was investigated by Schultz et al (2003). This gene encodes a large extracellular member of the immunoglobulin superfamily. Their results showed that a missense Gln5345Arg polymorphism in HEMICENTIN–1 segregates exclusively with the disease phenotype in a large AMD family. By screening our control samples and AMD patient samples obtained at the Bascom Palmer Eye Institute, we aimed to examine the frequency of the Gln5345Arg polymorphism in HEMICENTIN–1 in order to confirm the published results and enhance our understanding of the genes involved in AMD. Methods: A 194 bp fragment encompassing exon 104 of HEMICENTIN–1 was amplified via polymerase chain reaction. The restriction enzyme, HpyCH4 IV, that makes a single cut in the polymorphic form of HEMICENTIN–1 was used to identify the polymorphism in the PCR products. A control sample and AMD patient sample were sequenced to confirm the accuracy at the DNA sequence level. Results: In total, 34 control samples and 93 AMD patient samples were screened for the Gln5345Arg polymorphism. Our results showed that none of the samples screened contained the polymorphism and that all the samples had the wild–type form of the gene. DNA sequencing confirmed the result in selected samples. Conclusions: It has been suggested that HEMICENTIN–1 may play a role in the development of AMD. Based on our results, we conclude that the Gln5345Arg polymorphism is a rare causative phenomenon in AMD. CR: None Support: Foundation Fighting Blindness, Research to Prevent Blindness

Keywords: age–related macular degeneration • mutations • gene screening 
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