By Hugh Markus
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Extra info for Stroke Genetics (Oxford Medical Publications)
Amyloid angiopathy is 25 26 STROKE GENETICS frequently associated with multiple or recurrent haemorrhages. This cause of stroke is dealt with in more detail in Chapter 9. In a minority of patients the amyloid results from an autosomal dominant disorder due to mutations in the amyloid precursor protein gene, but in the majority of cases the disease appears to be sporadic. Cerebral arteriovenous malformations (AVMs) are an important cause of cerebral haemorrhage particularly in the young, in which age group they account for up to a third of intracerebral haemorrhages.
Polymorphisms occurring within the 5Ј gene regulatory region may create or destroy a DNA binding site motif thereby influencing the transcriptional regulation of the gene. Gene regulatory elements have also been shown to exist within intronic and exonic sequences, and polymorphisms within these regions would be expected to have similar consequences. Finally, since the 3ЈUTR of a gene frequently carries RNA binding protein motifs which influence mRNA processing and stability, polymorphisms occurring within this region of a gene may influence the steady-state levels of mRNA and consequently the amount of protein produced by translation of the mRNA.
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