ABCMdb

PMID: 12950098

Williams SH, Sahota V, Palmai-Pallag T, Tebbutt SJ, Walker J, Harris A
Evaluation of gene targeting by homologous recombination in ovine somatic cells.
Mol Reprod Dev. 2003 Oct;66(2):115-25., [PubMed]

Sentences

No. Mutations Sentence Comment

40 ABCC7 p.Gly27* The G27X mutation in exon 2, which has been reported in a CF patient (Shackleton and Harris, 1992), is caused by a G > T base change introducing a premature stop codon at amino acid 27 in the CFTR protein. Login to comment 41 ABCC7 p.Gly27* ABCC7 p.Gly27* Primers VIN9 (50 -AAGAAATGATACAGACA- GCGCTTGGAATTCGTCAG-30 ) and VIN10 (50 -TC- TGACGAATTCCAAGCGCTGTCTGTATCATTTCT-30 ) were designed to contain the G27X stop codon mutation (shown in bold) and a single base was inserted downstream of the G27X mutation to create a frame shift mutation and generate an Eco RI restriction enzyme site (shown in italics). Login to comment 42 ABCC7 p.Gly27* The G27X mutation was introduced into the 4.5 kb exon 2-containing clone by the QuickChange Site-directed Mutagenesis Kit (Stratagene, La Jolla, CA). Login to comment 133 ABCC7 p.Gly27* Long range PCR was also applied to the analysis of the G27X-targeted cells using the primer pair GLONGF/ GLONGR that amplified the intron 1/exon 2 region of ovine CFTR including 6.39 kb from the G27XDTneo targeting construct (Fig. 1). Login to comment