Analysis of genomic CFTR DNA

Claude Férec; Cédric Le Maréchal; Marie Pierre Audrézet; Carlos M. Farinha; Margarida D. Amaral; Sabina Gallati; Javier Sanz; Bernhard Steiner; Nathalie Mouchel; Ann Harris; Martin J. Schwarz

doi:10.1016/j.jcf.2004.05.003

Analysis of genomic CFTR DNA

Claude Férec, Cédric Le Maréchal, Marie Pierre Audrézet, Carlos M. Farinha, Margarida D. Amaral, Sabina Gallati, Javier Sanz, Bernhard Steiner, Nathalie Mouchel, Ann Harris, Martin J. Schwarz^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Abstract

There are numerous methodologies available for the analysis of genomic CFTR DNA. We present here the basic tools to allow a thorough investigation of the CFTR gene, beginning with the identification of potential regulatory regions using DNase I hypersensitive sites, and continuing with methods for the detection of mutations: denaturing High Performance Liquid Chromatography (dHPLC), Single Strand Conformation Polymorphism (SSCP), and allele-specific oligonucleotide (ASO) hybridisation. Also provided is a comprehensive set of PCR primers for the amplification of most regions of the CFTR gene. Full details of the methodologies given are to be found at the European Working Group on CFTR Expression website http://www.central.igc.gulbenkian.pt/cftr/vr/transcripts.html.

Original language	English (US)
Pages (from-to)	7-10
Number of pages	4
Journal	Journal of Cystic Fibrosis
Volume	3
Issue number	SUPPL. 2
DOIs	https://doi.org/10.1016/j.jcf.2004.05.003
State	Published - Aug 2004

Funding

The preparation of this review was supported by the EU-European Thematic Network on Cystic Fibrosis and Related Diseases (EU-QLK3-CT-1999-00241).

Keywords

ASO
CFTR
DHPLC
DNase I
Mutation detection
SSCP

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Pulmonary and Respiratory Medicine

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10.1016/j.jcf.2004.05.003

Cite this

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title = "Analysis of genomic CFTR DNA",

abstract = "There are numerous methodologies available for the analysis of genomic CFTR DNA. We present here the basic tools to allow a thorough investigation of the CFTR gene, beginning with the identification of potential regulatory regions using DNase I hypersensitive sites, and continuing with methods for the detection of mutations: denaturing High Performance Liquid Chromatography (dHPLC), Single Strand Conformation Polymorphism (SSCP), and allele-specific oligonucleotide (ASO) hybridisation. Also provided is a comprehensive set of PCR primers for the amplification of most regions of the CFTR gene. Full details of the methodologies given are to be found at the European Working Group on CFTR Expression website http://www.central.igc.gulbenkian.pt/cftr/vr/transcripts.html.",

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author = "Claude F{\'e}rec and {Le Mar{\'e}chal}, C{\'e}dric and Audr{\'e}zet, {Marie Pierre} and Farinha, {Carlos M.} and Amaral, {Margarida D.} and Sabina Gallati and Javier Sanz and Bernhard Steiner and Nathalie Mouchel and Ann Harris and Schwarz, {Martin J.}",

note = "Funding Information: The preparation of this review was supported by the EU-European Thematic Network on Cystic Fibrosis and Related Diseases (EU-QLK3-CT-1999-00241).",

year = "2004",

month = aug,

doi = "10.1016/j.jcf.2004.05.003",

language = "English (US)",

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AU - Férec, Claude

AU - Le Maréchal, Cédric

AU - Audrézet, Marie Pierre

AU - Farinha, Carlos M.

AU - Amaral, Margarida D.

AU - Gallati, Sabina

AU - Sanz, Javier

AU - Steiner, Bernhard

AU - Mouchel, Nathalie

AU - Harris, Ann

AU - Schwarz, Martin J.

N1 - Funding Information: The preparation of this review was supported by the EU-European Thematic Network on Cystic Fibrosis and Related Diseases (EU-QLK3-CT-1999-00241).

PY - 2004/8

Y1 - 2004/8

N2 - There are numerous methodologies available for the analysis of genomic CFTR DNA. We present here the basic tools to allow a thorough investigation of the CFTR gene, beginning with the identification of potential regulatory regions using DNase I hypersensitive sites, and continuing with methods for the detection of mutations: denaturing High Performance Liquid Chromatography (dHPLC), Single Strand Conformation Polymorphism (SSCP), and allele-specific oligonucleotide (ASO) hybridisation. Also provided is a comprehensive set of PCR primers for the amplification of most regions of the CFTR gene. Full details of the methodologies given are to be found at the European Working Group on CFTR Expression website http://www.central.igc.gulbenkian.pt/cftr/vr/transcripts.html.

AB - There are numerous methodologies available for the analysis of genomic CFTR DNA. We present here the basic tools to allow a thorough investigation of the CFTR gene, beginning with the identification of potential regulatory regions using DNase I hypersensitive sites, and continuing with methods for the detection of mutations: denaturing High Performance Liquid Chromatography (dHPLC), Single Strand Conformation Polymorphism (SSCP), and allele-specific oligonucleotide (ASO) hybridisation. Also provided is a comprehensive set of PCR primers for the amplification of most regions of the CFTR gene. Full details of the methodologies given are to be found at the European Working Group on CFTR Expression website http://www.central.igc.gulbenkian.pt/cftr/vr/transcripts.html.

KW - ASO

KW - CFTR

KW - DHPLC

KW - DNase I

KW - Mutation detection

KW - SSCP

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Analysis of genomic CFTR DNA

Abstract

Funding

Keywords

ASJC Scopus subject areas

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