May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Mutation Analysis of the Human Serum Amyloid P Component Gene in a United Kingdom Cohort of Age-Related Macular Degeneration (AMD) Patients by Two Different Methods
Author Affiliations & Notes
  • A. J. Cree
    Division of Clinical Neurosciences, University of Southampton, Southampton, United Kingdom
  • X. Chen
    Division of Clinical Neurosciences, University of Southampton, Southampton, United Kingdom
  • A. J. Lotery
    Division of Clinical Neurosciences, University of Southampton, Southampton, United Kingdom
    Southampton Eye Unit, Southampton General Hospital, Southampton, United Kingdom
  • Footnotes
    Commercial Relationships  A.J. Cree, None; X. Chen, None; A.J. Lotery, None.
  • Footnotes
    Support  The Wellcome Trust, British Council for the Prevention of Blindness
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 251. doi:https://doi.org/
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      A. J. Cree, X. Chen, A. J. Lotery; Mutation Analysis of the Human Serum Amyloid P Component Gene in a United Kingdom Cohort of Age-Related Macular Degeneration (AMD) Patients by Two Different Methods. Invest. Ophthalmol. Vis. Sci. 2008;49(13):251. doi: https://doi.org/.

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

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Abstract

Purpose: : The retinas of patients with AMD contain deposits known as drusen. These deposits contain lipids and proteins which accumulate in the layer called Bruch’s membrane. Drusen components provide a list of candidate genes for the genetic analysis of this degenerative eye disease. One such constituent is an acute phase protein called serum amyloid P component (APCS), whose gene is located at 1q21. We propose to investigate whether the coding region of this two exon gene contains any polymorphisms which may confer a predisposition to AMD.

Methods: : 200 AMD patients and 200 controls from a UK cohort were analysed by two different mutation scanning techniques. The APCS gene was investigated by amplifying 6 PCR fragments prior to analysis by both single stranded conformational polymorphism (SSCP) and high resolution melt (HRM) analysis. All fragments displaying a mobility shift by either screening method were DNA sequenced in order to discern the mutation involved, and allowed comparison between the two analyses.

Results: : Initial results reveal two previously described mutations within the APCS gene in this cohort. A non-synonymous polymorphism within exon 1 (P4S), and a synonymous polymorphism (V144V) in exon 2, both of which are class 1 single nucleotide polymorphisms (SNPs) with a change in melting temperature (Tm) greater than 0.5°C.

Conclusions: : The two analytical methods employed detected both of the polymorphisms described. Further studies are underway to establish which mutation scanning method proves to be the most sensitive, reliable and cost effective.

Keywords: age-related macular degeneration • mutations • drusen 
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