Quantitative methods for the analysis of CFTR transcripts/splicing variants

Margarida D. Amaral; Luka A. Clarke; Anabela S. Ramalho; Sebastian Beck; Fiona Broackes-Carter; Rebecca Rowntree; Nathalie Mouchel; Sarah H. Williams; Ann Harris; Maria Tzetis; Bernhard Steiner; Javier Sanz; Sabina Gallati; Malka Nissim-Rafinifa; Batsheva Kerem; Timothy Hefferon; Garry R. Cutting; Elisa Goina; Franco Pagani

doi:10.1016/j.jcf.2004.05.047

Quantitative methods for the analysis of CFTR transcripts/splicing variants

Margarida D. Amaral^*, Luka A. Clarke, Anabela S. Ramalho, Sebastian Beck, Fiona Broackes-Carter, Rebecca Rowntree, Nathalie Mouchel, Sarah H. Williams, Ann Harris, Maria Tzetis, Bernhard Steiner, Javier Sanz, Sabina Gallati, Malka Nissim-Rafinifa, Batsheva Kerem, Timothy Hefferon, Garry R. Cutting, Elisa Goina, Franco Pagani

^*Corresponding author for this work

Department of Genetics

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

12 Scopus citations

Abstract

In cystic fibrosis (CF), transcript analysis and quantification are important for diagnosis, prognosis and also as surrogate markers for some therapies including gene therapy. Classical RNA-based methods require significant expression levels in target samples for appropriate analysis, thus PCR-based methods are evolving towards reliable quantification. Various protocols for the quantitative analysis of CFTR transcripts (including those resulting from splicing variants) are described and discussed here.

Original language	English
Pages (from-to)	17-23
Number of pages	7
Journal	Journal of Cystic Fibrosis
Volume	3
Issue number	SUPPL. 2
DOIs	https://doi.org/10.1016/j.jcf.2004.05.047
State	Published - Aug 2004

Bibliographical 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) and grants from the Italian Cystic Fibrosis Research Foundation, the Cystic Fibrosis Trust (UK), Vaincre La Mucoviscidose (France), the Portuguese Foundation for Science and Technology (POCTI/1999/MGI/35737; POCTI/MGI/47382/2002) and the EU (“CF-Chip” EU-QLK3-CT-2001-01982).

Keywords

Alternative splicing
Quantitative PCR
RT-PCR
Real-time PCR
Splicing
Transcripts

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.jcf.2004.05.047

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Amaral, M. D., Clarke, L. A., Ramalho, A. S., Beck, S., Broackes-Carter, F., Rowntree, R., Mouchel, N., Williams, S. H., Harris, A., Tzetis, M., Steiner, B., Sanz, J., Gallati, S., Nissim-Rafinifa, M., Kerem, B., Hefferon, T., Cutting, G. R., Goina, E., & Pagani, F. (2004). Quantitative methods for the analysis of CFTR transcripts/splicing variants. Journal of Cystic Fibrosis, 3(SUPPL. 2), 17-23. https://doi.org/10.1016/j.jcf.2004.05.047

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title = "Quantitative methods for the analysis of CFTR transcripts/splicing variants",

abstract = "In cystic fibrosis (CF), transcript analysis and quantification are important for diagnosis, prognosis and also as surrogate markers for some therapies including gene therapy. Classical RNA-based methods require significant expression levels in target samples for appropriate analysis, thus PCR-based methods are evolving towards reliable quantification. Various protocols for the quantitative analysis of CFTR transcripts (including those resulting from splicing variants) are described and discussed here.",

keywords = "Alternative splicing, Quantitative PCR, RT-PCR, Real-time PCR, Splicing, Transcripts",

author = "Amaral, {Margarida D.} and Clarke, {Luka A.} and Ramalho, {Anabela S.} and Sebastian Beck and Fiona Broackes-Carter and Rebecca Rowntree and Nathalie Mouchel and Williams, {Sarah H.} and Ann Harris and Maria Tzetis and Bernhard Steiner and Javier Sanz and Sabina Gallati and Malka Nissim-Rafinifa and Batsheva Kerem and Timothy Hefferon and Cutting, {Garry R.} and Elisa Goina and Franco Pagani",

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) and grants from the Italian Cystic Fibrosis Research Foundation, the Cystic Fibrosis Trust (UK), Vaincre La Mucoviscidose (France), the Portuguese Foundation for Science and Technology (POCTI/1999/MGI/35737; POCTI/MGI/47382/2002) and the EU (“CF-Chip” EU-QLK3-CT-2001-01982).",

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Amaral, MD, Clarke, LA, Ramalho, AS, Beck, S, Broackes-Carter, F, Rowntree, R, Mouchel, N, Williams, SH, Harris, A, Tzetis, M, Steiner, B, Sanz, J, Gallati, S, Nissim-Rafinifa, M, Kerem, B, Hefferon, T, Cutting, GR, Goina, E & Pagani, F 2004, 'Quantitative methods for the analysis of CFTR transcripts/splicing variants', Journal of Cystic Fibrosis, vol. 3, no. SUPPL. 2, pp. 17-23. https://doi.org/10.1016/j.jcf.2004.05.047

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AU - Amaral, Margarida D.

AU - Clarke, Luka A.

AU - Ramalho, Anabela S.

AU - Beck, Sebastian

AU - Broackes-Carter, Fiona

AU - Rowntree, Rebecca

AU - Mouchel, Nathalie

AU - Williams, Sarah H.

AU - Harris, Ann

AU - Tzetis, Maria

AU - Steiner, Bernhard

AU - Sanz, Javier

AU - Gallati, Sabina

AU - Nissim-Rafinifa, Malka

AU - Kerem, Batsheva

AU - Hefferon, Timothy

AU - Cutting, Garry R.

AU - Goina, Elisa

AU - Pagani, Franco

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) and grants from the Italian Cystic Fibrosis Research Foundation, the Cystic Fibrosis Trust (UK), Vaincre La Mucoviscidose (France), the Portuguese Foundation for Science and Technology (POCTI/1999/MGI/35737; POCTI/MGI/47382/2002) and the EU (“CF-Chip” EU-QLK3-CT-2001-01982).

PY - 2004/8

Y1 - 2004/8

N2 - In cystic fibrosis (CF), transcript analysis and quantification are important for diagnosis, prognosis and also as surrogate markers for some therapies including gene therapy. Classical RNA-based methods require significant expression levels in target samples for appropriate analysis, thus PCR-based methods are evolving towards reliable quantification. Various protocols for the quantitative analysis of CFTR transcripts (including those resulting from splicing variants) are described and discussed here.

AB - In cystic fibrosis (CF), transcript analysis and quantification are important for diagnosis, prognosis and also as surrogate markers for some therapies including gene therapy. Classical RNA-based methods require significant expression levels in target samples for appropriate analysis, thus PCR-based methods are evolving towards reliable quantification. Various protocols for the quantitative analysis of CFTR transcripts (including those resulting from splicing variants) are described and discussed here.

KW - Alternative splicing

KW - Quantitative PCR

KW - RT-PCR

KW - Real-time PCR

KW - Splicing

KW - Transcripts

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IS - SUPPL. 2

ER -

Quantitative methods for the analysis of CFTR transcripts/splicing variants

Abstract

Bibliographical note

Keywords

UN SDGs

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