title: The role of exon 45 and 16 in the pathogenesis of Von Willebrand disease in Iranian Patients.
abstract: BACKGROUND
  Von Willebrand disease (VWD) is an autosomal recessive congenital bleeding disorder with deficiency or dysfunction of von Willebrand factor (VWF). The gene encoding for the VWF is located on chromosome 12, which is 178 Kb with 52 exons. Various mutations of this gene is responsible for the clinical features of VWD, but some single nucleotide polymorphisms make the 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 were evaluated.
  
  
  METHODS
  Genetic variations in exon 45 and exon 16 of VWF gene were evaluated in 33 patients diagnosed with type 3 VWD from south west of Iran. Two exons with their flanking introns were amplified by PCR and amplicons were analyzed by sequencing for any molecular changes.
  
  
  RESULTS
  No mutation was found in both selected regions. An A/C polymorphism in intron 44 was recognized in all patients in homozygous manner. This SNP reported for the first time from Iranian VWD patients.
  
  
  CONCLUSIONS
  Mutation of VWF gene is different in various ethnic groups, which finding of is important in the diagnosis 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 should be evaluated in affected individuals from south west of Iran.
authors.affiliation: Department of Genetics, Science and Research Branch, Islamic Azad University, Fars, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Nasiri
authors.affiliation: Research Centre for Thalassemia and Hemoglobinopathies of Ahvaz Jundishapur University of Medical Sciences Ahvaz, Iran.
authors.forename: H
authors.initials: H
authors.lastname: Galehdari
authors.affiliation: Department of Genetics, Science and Research Branch, Islamic Azad University, Fars, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Darbouy
authors.affiliation: Hematology Research Centre, Shiraz University of Medical Science, Shiraz, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Yavarian
authors.affiliation: Research Centre for Thalassemia and Hemoglobinopathies of Ahvaz Jundishapur University of Medical Sciences Ahvaz, Iran.
authors.forename: B
authors.initials: B
authors.lastname: Keikhaee
keywords: Mutation; PCR-Sequencing; Single Nucleotide Polymorphism (SNP); Von Willebrand Factor; Von Willebrand disease