The role of exon 45 and 16 in the pathogenesis of Von Willebrand disease in Iranian Patients

BackgroundVon Willebrand disease (VWD) is an autosomal recessive congenital bleeding disorder withdeficiency or dysfunction of von Willebrand factor (VWF). The gene encoding for the VWF islocated on chromosome 12, which is 178 Kb with 52 exons. Various mutations of this gene isresponsible for the clinical features of VWD, but some single nucleotide polymorphisms makethe molecular diagnosis of it very complicated.In this study genetic variations in two exons (45& 16) of VWF gene in Iranian patients suffer from type 3 VWD from south west of Iran wereevaluated.Materials and MethodsGenetic variations in exon 45 and exon 16 of VWF gene were evaluated in 33 patients diagnosedwith type 3 VWD from south west of Iran. Two exons with their flanking introns were amplifiedby PCR and amplicons were analyzed by sequencing for any molecular changes.ResultsNo mutation was found in both selected regions. An A/C polymorphism in intron 44 wasrecognized in all patients in homozygous manner. This SNP reported for the first time fromIranian VWD patients.ConclusionMutation of VWF gene is different in various ethnic groups, which finding of is important in thediagnosis of the VWD, especially for prenatal diagnosis.A few mutations are reported for exon 45 and 16 of this gene in Iran and other countries. But,present study didn't find any mutation in these patients. Mutation in other exons or introns shouldbe evaluated in affected individuals from south west of Iran.