Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related macular degeneration using high-resolution melting analysis

Benedetto Falsini, Cecilia Zuppi, Bruno Giardina, Paola Concolino, Ettore Domenico Capoluongo

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

6 Citazioni (Scopus)

Abstract

Age-related macular degeneration (AMD) is a complex disorder causing irreversible central vision loss. Complement Factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) are now widely accepted as important AMD susceptibility genes. In particular, two specific variants, CFH p.Y402H and ARMS2 p.A69S, have been reported as strongly AMD associated. In order to perform the genetic screening of these single nucleotide polymorphisms (SNPs), we describe a high resolution melting analysis (HRM) as a rapid closed tube mutation scanning assay.
Lingua originaleEnglish
pagine (da-a)1031-1034
Numero di pagine4
RivistaClinical Chemistry and Laboratory Medicine
Volume50
DOI
Stato di pubblicazionePubblicato - 2012

Keywords

  • Complement Factor H
  • Genotyping Techniques
  • Humans
  • Macular Degeneration
  • Nucleic Acid Denaturation
  • Polymorphism, Single Nucleotide
  • Time Factors
  • Transition Temperature

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