CFTR protein analysis of splice site mutation 2789+5 G-A
Copyright policy )CFTR protein analysis of splice site mutation 2789+5 G-A
Ex vivo biochemical analysis of rectal biopsies of a carrier of the mild 2789+5 G-A CFTR frameshift splice site mutation revealed mutant truncated CFTR of expected size and an imbalance of more core-glycosylated and less mature full-length CFTR. This first immunoblot analysis of a non-F508del CFTR mutant protein derived from human tissue demonstrates that splice site mutations should not only be investigated at the mRNA, but also at the protein level to properly interpret the associations between genotype, molecular pathology and disease.
- Hochschule Hannover Germany
- Hannover Medical School Germany
Pulmonary and Respiratory Medicine, Male, Cystic Fibrosis, Genotype, Splice site mutation, Biopsy, Rectal biopsy, DNA Mutational Analysis, Immunoblotting, Rectum, Cystic Fibrosis Transmembrane Conductance Regulator, Cystic fibrosis, Mutation, Humans, Pediatrics, Perinatology, and Child Health, RNA, Messenger, CFTR, Intestinal current measurement, Child
Pulmonary and Respiratory Medicine, Male, Cystic Fibrosis, Genotype, Splice site mutation, Biopsy, Rectal biopsy, DNA Mutational Analysis, Immunoblotting, Rectum, Cystic Fibrosis Transmembrane Conductance Regulator, Cystic fibrosis, Mutation, Humans, Pediatrics, Perinatology, and Child Health, RNA, Messenger, CFTR, Intestinal current measurement, Child
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