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

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
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
Externally published	Yes

Keywords

ASO
CFTR
DHPLC
DNase I
Mutation detection
SSCP

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10.1016/j.jcf.2004.05.003

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@article{6b5c69f1b0e54533be247ead66fa3270,

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.",

keywords = "ASO, CFTR, DHPLC, DNase I, Mutation detection, SSCP",

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",

volume = "3",

pages = "7--10",

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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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DO - 10.1016/j.jcf.2004.05.003

M3 - Article

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AN - SCOPUS:19944398107

SN - 1569-1993

VL - 3

SP - 7

EP - 10

JO - Journal of Cystic Fibrosis

JF - Journal of Cystic Fibrosis

IS - SUPPL. 2

ER -

Analysis of genomic CFTR DNA

Abstract

Keywords

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