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A. J. Cree, D. Trump, I. J. Okotcha, A. J. Lotery; Mutation Analysis of EMILIN-1 in a United Kingdom Cohort of Age-Related Macular Degeneration Patients. Invest. Ophthalmol. Vis. Sci. 2007;48(13):4627.
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To assess the allelic variation of elastin microfibril interface-located protein-1 (EMILIN-1) in a United Kingdom cohort of age-related macular degeneration (AMD) patients.
514 caucasian subjects with AMD and 376 normal controls were recruited from ophthalmic clinics at the Southampton Eye Unit and the island of Guernsey. AMD phenotypes were characterised by clinical examination, stereoscopic fundus photography, fluorescein angiography and optical coherence tomography, The cohort was screened for mobility band shifts in EMILIN-1 amplimers by single stranded conformation polymorphism (SSCP) and automated silver staining. Samples showing band shifts were then direct sequenced on an ABI 3100 Genetic Analyzer.
Five non-synonymous coding variants have been identified in the EMILIN-1 gene in our UK AMD cohort. In addition, one intronic and five synonymous coding changes were observed in six patients. However, compared to controls these changes were not statistically significant.
This study identifies novel sequence variations in the EMILIN-1 gene in AMD patients. Further studies are underway to assess any functional significance.
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