Methylation analysis of the promoter region and intron 1 of the factor VIII gene in haemophilia A patients.

Abstract:

:Methylation, CpG island, promoter, intron 1 Haemophilia A is the most common X-linked inherited coagulation disorder caused by a deficiency of the factor VIII protein (FVIII). A plethora of different mutations in the factor VIII gene (F8) have been identified as causative for this bleeding disease including a few promoter mutations. However, in approximately 2-5% of all haemophilic patients, the causal mutation still remains unknown. To our knowledge, epigenetic abnormalities in regulatory regions of the F8 gene have not yet been implicated in the disease pathogenesis. We therefore developed bisulfite pyrosequencing assays to screen patients with unknown mutation status for their methylation patterns in presumed regulative regions of the F8 gene (5'UTR and intron 1). The methylation patterns of haemophilia A patients did not differ from that of controls. In three patients, chromosomal aberrations were identified which could be associated with a defective FVIII synthesis.

journal_name

Hamostaseologie

journal_title

Hamostaseologie

authors

Zimmermann MA,Hansmann T,Haaf T,Oldenburg J,Müller CR,Rost S

subject

Has Abstract

pub_date

2013-01-01 00:00:00

pages

S46-9

eissn

0720-9355

issn

2567-5761

pii

13410S46

journal_volume

33 Suppl 1

pub_type

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