Swystun Laura L, James Paula D
Department of Pathology and Molecular Medicine, Richardson Laboratory, 88 Stuart St, Queen's University, Kingston, ON K7L 3N6, Canada.
Department of Medicine, Etherington Hall, 94 Stuart St, Queen's University, Kingston, ON K7L 3N6, Canada.
Blood Rev. 2017 Jan;31(1):47-56. doi: 10.1016/j.blre.2016.08.003. Epub 2016 Aug 17.
Phenotypic assays are first-line in terms of diagnostic testing for inherited bleeding disorders. However, since the characterization of the genes that encode coagulation factors in the 1980s, significant progress has been made in translating this knowledge for diagnostic and therapeutic purposes. For the hemophilias, molecular genetic testing can be used to determine carrier status, establish a prenatal diagnosis and predict the likelihood of inhibitor development or anaphylaxis in response to infused coagulation factor concentrates. In contrast, for von Willebrand disease (VWD), significant recent advances in our understanding of the molecular genetic basis of the disease have allowed for the development of rational approaches to genetic diagnostics. Questions remain however, about this complex genetic disorder and how to incorporate emerging knowledge into diagnostic strategies.
就遗传性出血性疾病的诊断检测而言，表型分析是一线方法。然而，自20世纪80年代对编码凝血因子的基因进行表征以来，在将这一知识转化用于诊断和治疗目的方面已经取得了重大进展。对于血友病，分子遗传学检测可用于确定携带者状态、进行产前诊断以及预测抑制剂形成或对输注的凝血因子浓缩物发生过敏反应的可能性。相比之下，对于血管性血友病（VWD），我们对该疾病分子遗传基础的最新认识取得了重大进展，从而能够开发合理的基因诊断方法。然而，关于这种复杂的遗传疾病以及如何将新出现的知识纳入诊断策略，仍然存在问题。
