TY - JOUR
T1 - Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related macular degeneration using high-resolution melting analysis
AU - Mello, Enrica
AU - Falsini, Benedetto
AU - Zuppi, Cecilia
AU - Giardina, Bruno
AU - Concolino, Paola
AU - Capoluongo, Ettore Domenico
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
KW - Complement Factor H
KW - Genotyping Techniques
KW - Humans
KW - Macular Degeneration
KW - Nucleic Acid Denaturation
KW - Polymorphism, Single Nucleotide
KW - Time Factors
KW - Transition Temperature
KW - Complement Factor H
KW - Genotyping Techniques
KW - Humans
KW - Macular Degeneration
KW - Nucleic Acid Denaturation
KW - Polymorphism, Single Nucleotide
KW - Time Factors
KW - Transition Temperature
UR - http://hdl.handle.net/10807/39316
U2 - 10.1515/cclm-2011-0859
DO - 10.1515/cclm-2011-0859
M3 - Article
SN - 1434-6621
VL - 50
SP - 1031
EP - 1034
JO - Clinical Chemistry and Laboratory Medicine
JF - Clinical Chemistry and Laboratory Medicine
ER -