Journal of Global Pharma Technology
Volume 9 Issue 10

Novel Mutations Related with Von Willebrand Disease in Iraqi Patients

Ali H. AL-Musawi (Unknown)



Article Info

Publish Date
18 Nov 2017

Abstract

Von Willebrand Disease (VWD) is the most common hereditary bleeding disorder in humans, with an estimated prevalence ranging upward to 1% of the general population. Males and females are both approximately equally affected. VWD arises from a deficiency or dysfunction of von Willebrand factor (VWF). The aim of this study was to detection of mutations of VWF gene in 15 unrelated patients. Polymerase chain reaction (PCR) and direct sequencing was performed for two functionally regions of the gene (exon 18 and exon 19). This study showed many mutations occurred in males and females patients that is impact  for the change  arrangement the amino acid  causing change VWF protein (as a carrier and protection of F8 protein responsibility for hemophilia A)function, and leading to Von willebrand disease. This study showed several mutations within the VWF gene in fifteen Iraqi patients by the molecular analysis revealed 35 point mutations in this study. These mutations included 15 missense variant and 9 silent mutations, while the rest were intrinsic mutations .These mutations may be related with   Von willebrand disease.Keywords: Von willebrand, Mutation, PCR.

Copyrights © 2017






Journal Info

Abbrev

jgpt

Publisher

Subject

Medicine & Pharmacology

Description

ournal of Global Pharma Technology is a monthly, open access, Peer review journal of Pharmacy published by JGPT Journal publishes peer-reviewed original research papers, case reports and systematic reviews. The journal allows free access to its contents, which is likely to attract more readers and ...