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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. Materials and 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. Conclusion 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.

Keywords: Von Willebrand disease, Von Willebrand Factor, Single Nucleotide Polymorphism (SNP), Mutation, PCR-Sequencing

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