Article
Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency.
British journal of haematology - 1 Apr 2004
Wijk Richard, van Wesel Annet C W, Thomas Adri A M, Rijksen Gert, van Solinge Wouter W
Abstract excerpt
Two single-nucleotide substitutions in PKLR constituted the molecular basis underlying pyruvate kinase (PK) deficiency in a patient with severe haemolytic anaemia. One novel mutation, IVS5+1G>A, abolished the intron 5 donor splice site. The other mutation, c.1436G>A, altered the intron 10 donor splice site consensus sequence and, moreover, encoded an R479H substitution. We studied the effects on PKLR pre-mRNA...
Topics
- Adult
- Anemia, Hemolytic, Congenital
- Blotting, Western
- Erythroid Cells
- Female
- Humans
- Introns
- Mutation
- Pyruvate Kinase
- RNA Precursors
- RNA Splicing
- Reverse Transcriptase Polymerase Chain Reaction
- Sequence Analysis, DNA