Quantitative methods for the analysis of CFTR transcripts/splicing variants

Citation:

Margarida D Amaral, Clarke, Luka A, Ramalho, Anabela S, Beck, Sebastian , Broackes-Carter, Fiona , Rowntree, Rebecca , Mouchel, Nathalie , Williams, Sarah H, Harris, Ann , Tzetis, Maria , Steiner, Bernhard , Sanz, Javier , Gallati, Sabina , Nissim-Rafinifa, Malka , Kerem, Batsheva , Hefferon, Timothy , Cutting, Garry R, Goina, Elisa , and Pagani, Franco . 2004. “Quantitative Methods For The Analysis Of Cftr Transcripts/Splicing Variants”. J Cyst Fibros, 3 Suppl 2, Pp. 17-23. doi:10.1016/j.jcf.2004.05.047.

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.