Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Imam Abdulrahman Bin Faisal University. KSA.
Med Arch. 2020 Oct;74(5):337-341. doi: 10.5455/medarh.2020.74.337-341.
Von Willebrand disease (VWD) is an autosomal congenital bleeding syndrome that was described as being the most widespread genetic condition among men. In Saudi Arabia, the genotyping of the VWF gene is necessary to establish a diagnosis procedure for VWD.
The current research, however, attempted to evaluate the phenotypic-genotypic association of the Von Willebrand factor (exon 18 and 20) gene in healthy subjects to establish effective molecular diagnostic strategies.
This was a cross-sectional retrospective included 100 healthy people who have been chosen from King Fahad University Hospital. Whole blood samples were collected from all individuals, as well as the laboratory analysis was done using automatic analyzers for; platelet count, ABO blood group and coagulation parameters. DNA Sanger sequencing has been used to sequestrate the full exons 18 and 20.
In exon 18 of healthy people, three unusual sequence variations (1 missense and 2 synonymous; rs775479826, rs1286572448 and rs369828268) compared to other recorded VWF variations (3 missense and 1 synonymous; c.2365A > G, c.2385T > C, c.2344C > T and c.2340C > G). But in exon 20 only 1 synonymous novel (rs113240752) 1 registered VWF variations in missense (c.2555G > A) were identified.
The present variants found on those participates could be a realistic approach to detect mutation in the VWF gene to illustrating the relationship of phenotypic and genetic abnormalities variables may lead to determining the functional effect in mutations specific to the Saudi people that can be used to develop a diagnostic tool for VWD in KSA.
血管性血友病（VWD）是一种常染色体先天性出血综合征，被描述为男性中最普遍的遗传疾病。在沙特阿拉伯，需要对 VWF 基因进行基因分型，以建立 VWD 的诊断程序。
然而，本次研究试图评估健康受试者中血管性血友病因子（外显子 18 和 20）基因的表型-基因型相关性，以建立有效的分子诊断策略。
这是一项横断面回顾性研究，共纳入 100 名来自法赫德国王大学医院的健康个体。从所有个体中采集全血样本，并使用自动分析仪进行实验室分析，包括血小板计数、ABO 血型和凝血参数。使用 DNA Sanger 测序对完整的外显子 18 和 20 进行测序。
在健康人群的外显子 18 中，与其他记录的 VWF 变异相比，有三个异常序列变异（1 个错义变异和 2 个同义变异；rs775479826、rs1286572448 和 rs369828268）。但在外显子 20 中，只发现了 1 个同义的新变异（rs113240752）和 1 个记录的错义变异（c.2555G > A）。
在这些参与者中发现的现有变异可能是一种现实的方法，可以检测 VWF 基因中的突变，说明表型和遗传异常变量之间的关系可能导致确定特定于沙特人群的突变的功能效应，这可以用于在沙特阿拉伯开发 VWD 的诊断工具。
