میزان بیان ژن vWF در بیماران و ناقلین فون‌ویلبراند نوع 3 با روش Real-time RT PCR

Abstractbackground and objectivesvon willebrand disease (vwd) is the most common inherited haemorrhagic abnormality. the disease is caused by deficiency of von willebrand factor (vwf). vwf is encoded by vwf gene and vwd type3 is the severest form of the disease inherited in autosomal recessive pattern. in the present study, the impact of various vwf gene mutations on mrna expression was investigated in vwd patients. materials and methodsblood samples were obtained from vwd patients with known mutations to determine the vwf gene expression level. peripheral blood platletes were isolated and the total rna was extracted. to evaluate the vwd gene expression of patients and carriers, the quantitative real-time pcr of the platelet cdnas was performed.resultspatients in families with the nonsense mutation in exon 35 showed significantly lower levels of vwf mrna compared to the hetrozygote carriers of the mutation and normal controls (p=0.005). however, there was no significant difference between vwf mrna levels in patients and carriers in the other families who had splice site mutation in exon 10 (p=0.288). the impact of the mutation on the protein synthesis and function has yet to be investigated.conclusionseach mutation in vwf gene has its particular impact on the gene expression. it has been shown that even mutations of the same type may have different effects on mrna expression. evaluation of cdna is not applicable in the cases in which the mrna is affected by nmd pathway.