Deletions and duplications in the factor VIII gene identified using multiplex ligation‐dependent probe amplification

Abstract

of the STR and SNP loci on VWF:Ag levels. The results shown in Table 1C suggest that these two polymorphic regions have no significant cooperative effect on VWF:Ag levels in the EU population, before or after controlling for the effect of ABO blood group on VWF:Ag levels (Table 1C). This suggests that an effect on VWF:Ag levels is mediated only by the (GT) n repeat.In conclusion, this study has provided evidence that the c.-2527G>A VWF promoter SNP does not have a significant effect on levels of VWF in the EU population. In contrast, the VWF (GT) n STR exhibited a small effect on VWF levels, mediated by its length. A SNP-STR cooperative effect on the regulation of VWF:Ag levels in HCs was excluded. This is the largest study examining the potential influence of these loci on VWF levels in HCs while controlling for the effect of ABO blood group, and is the first study to show a significant effect of the c.-2144 to -2105 locus on VWF levels under normal conditions.

Identification of a novel large deletion in a patient with severe factor V deficiency using an in‐house F5 MLPA assay

“…Gross gene rearrangements are believed to play a major role in the aetiology of human diseases, but tend to be under-explored because of the lack of straightforward techniques for their detection. The development of commercial MLPA assays for several coagulation-related genes has led to the identification of large deletions/duplications in patients with various coagulation disorders, including haemophilia A [17][18][19] and B [20], von Willebrand disease [21,22] and the deficiencies of antithrombin [16,[23][24][25], protein C [25] and protein S [25][26][27][28][29][30]. Although gross rearrangements of the F5 gene may also be more prevalent than previously suspected, only one of the 14 genetically unexplained FV-deficient patients investigated in our study turned out to carry a large deletion.…”