Genetic Variations in Exon 3 of VWF Gene in Patients with Von Willebrand Disease (VWD) from South-West Iran

Background Von Willebrand disease (VWD) is an autosomally inherited bleeding disorder with the prevalence of 1% based on population studies. The disease phenotype is due to quantitative and structural/functional defects in Von Willebrand Factor (VWF) which is a glycoprotein with essential role as a carrier of FVIII in circulation and also it serves the function as hemostasis regulator. VWF is encoded by a large gene located on chromosome 12 which spans 178kb and has 52 exons. Many different mutations are known in VWF gene that can affect the VWD phenotypic features. Materials and Methods In this study we evaluated genetic variations in exon 45 of VWF gene in Iranian patients suffer from VWD from South-west Iran. Materials and Methods: 36 patients diagnosed with VWD (11 males and 25 females), with different ages, from Khuzestan province are participated in the investigation. Exon 3 with the flanking intronic sequences was amplified by PCR and the amplicons were analyzed by sequencing for any genetic changes ( mutations and Single Nucleotide Polymorphism (SNPs)). Results No mutation was found in our patients in this exon. A novel SNP was recognized in all patients in a homozygous manner, T/C in intron 3. Conclusion Although previous molecular investigations of VWD in Iran and some neighboring countries documented several mutations in exon 3, our research showed some contradictory result. The results of our study provided a new insight for further studies, not integrating exon 3 in their analysis