Scientific Journal of

  Abstrac t

 Background and Objectives

 Von Willebrand Disease (vWD) is the most common inherited coagulation disorder in human beings. Quantitative and qualitative deficiencies of von Willebrand Factor (vWF) are the main causes of the disease. Various genetic factors can influence the plasma level of this protein in either the vWD patients or healthy people. In the present study, the RsaI polymorphism of the vWF gene coding region was analyzed. This polymorphism may be associated with the plasma level variations of the vWF.

 Materials and Methods

 In this descriptive study, the allele frequency of vWF RsaI polymorphism was assessed in 19 vWD patients and 50 controls through 2010. A fragment containing the RsaI polymorphism was amplified by using specific primers. Then, each PCR product was subjected to RFLP analysis using RsaI restriction enzyme digestion. The genotype of each sample was indicated as either homozygot (AA, GG) or heterozygote (AG).

 Results

 The frequency of RsaI polymorphism “G” allele was 29% compared to the frequency of 71% for the allele “A” among 100 alleles of Iranian population. These frequencies were 23.6% and 76.3% for the “G” and “A” alleles, respectively, in vWD patients. On the other hand, “GG” homozygot genotype was more frequent among vWD patients compared to the healthy individuals (21% in vWD patients Vs 8% in healthy individuals).

 Conclusions

 The frequency of RsaI “G” allele in healthy Iranian population was in agreement with its predicted geographical distribution. Our results revealed that the homozygot GG genotype is detectable even in healthy individuals.