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
Hamostaseologiejournal_title
Hamostaseologieauthors
Zimmermann MA,Hansmann T,Haaf T,Oldenburg J,Müller CR,Rost Ssubject
Has Abstractpub_date
2013-01-01 00:00:00pages
S46-9eissn
0720-9355issn
2567-5761pii
13410S46journal_volume
33 Suppl 1pub_type
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