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

Enrica Mello; Benedetto Falsini; Cecilia Zuppi; Bruno Giardina; Paola Concolino; Ettore Domenico Capoluongo

doi:10.1515/cclm-2011-0859

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

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

Università Cattolica del Sacro Cuore

Risultato della ricerca: Contributo in rivista › Articolo › peer 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 originale	Inglese
pagine (da-a)	1031-1034
Numero di pagine	4
Rivista	Clinical Chemistry and Laboratory Medicine
Volume	50
DOI	https://doi.org/10.1515/cclm-2011-0859
Stato di pubblicazione	Pubblicato - 2012

Keywords

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

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10.1515/cclm-2011-0859

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

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.",

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

author = "Enrica Mello and Benedetto Falsini and Cecilia Zuppi and Bruno Giardina and Paola Concolino and Capoluongo, \{Ettore Domenico\}",

year = "2012",

doi = "10.1515/cclm-2011-0859",

language = "English",

volume = "50",

pages = "1031--1034",

journal = "Clinical Chemistry and Laboratory Medicine",

issn = "1434-6621",

publisher = "Walter de Gruyter GmbH",

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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 -

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

Abstract

Keywords

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