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

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.

journal_name

Mol Cell Probes

journal_title

Molecular and cellular probes

authors

Ong PM,Lanyon WG,Moore MR,Connor JM

doi

10.1006/mcpr.1997.0153

subject

Has Abstract

pub_date

1998-04-01 00:00:00

pages

63-70

issue

2

eissn

0890-8508

issn

1096-1194

pii

S0890-8508(97)90153-5

journal_volume

12

pub_type

杂志文章

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