Acute intermittent porphyria: alternative splicing of hydroxymethylbilane synthase mRNA excludes exons 3 and 12

Ong, PML, Lanyon, WG, Moore, MR and Connor, JM (1998) Acute intermittent porphyria: alternative splicing of hydroxymethylbilane synthase mRNA excludes exons 3 and 12. Molecular And Cellular Probes, 12 2: 63-70.


Author Ong, PML
Lanyon, WG
Moore, MR
Connor, JM
Title Acute intermittent porphyria: alternative splicing of hydroxymethylbilane synthase mRNA excludes exons 3 and 12
Journal name Molecular And Cellular Probes   Check publisher's open access policy
ISSN 0890-8508
Publication date 1998
Sub-type Article (original research)
DOI 10.1006/mcpr.1997.0153
Volume 12
Issue 2
Start page 63
End page 70
Total pages 8
Language eng
Abstract The hydroxymethylbilane synthase (HMBS) mRNAs from 44 control individuals and 30 patients suffering from acute intermittent porphyria (AIP), were screened for length differences by reverse transcriptase polymerase chain reaction (RT-PCR) and any abnormalities were characterized by direct sequencing. Examination of the mRNAs extracted from the peripheral blood lymphocytes of the samples revealed varying degrees of alternative splicing, involving the removal of exons 3 and 12. Approximately 10-50% of the mRNA molecules were affected, despite the absence of genomic splice site mutations or any major deviance from consensus splice sequence values. The preliminary data obtained from this study suggest that this event is a normal occurrence in peripheral blood lymphocytes, and may not be associated with the molecular pathology responsible for AIP. (C) 1998 Academic Press Limited.
Keyword Biochemical Research Methods
Biochemistry & Molecular Biology
Biotechnology & Applied Microbiology
Cell Biology
Alternative Splicing
Hydroxymethylbilane Synthase
Acute Intermittent Porphyria
Consensus Value
Porphobilinogen Deaminase Gene
Rna
Mutation
Expression
Junctions
Dna
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: National Research Centre for Environmental Toxicology Publications
 
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