Abstract
Mutation analysis of the TAZ (G4.5) gene was performed on a patient with Barth syndrome. The reverse transcription/polymerase chain reaction procedure showed aberrant splicing and elongation of exon 3 because of the insertion of 106 bases (IVS3+1 to +106) between exons 3 and 4. The genomic DNA revealed an intronic mutation four bases downstream from the new cleavage site (IVS3+110G→A). The IVS3+110G→A mutation created a novel 5′ splice site that showed GC but not GT, and the additional splice site was used preferentially over the upstream authentic slice site. This is a new type of splicing mutation responsible for a human genetic disease.
Original language | English |
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Pages (from-to) | 559-563 |
Number of pages | 5 |
Journal | Human Genetics |
Volume | 109 |
Issue number | 5 |
DOIs | |
Publication status | Published - 2001 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)