Peake I
Department of Medicine and Pharmacology, University of Sheffield, Royal Hallamshire Hospital, UK.
Southeast Asian J Trop Med Public Health. 1993;24 Suppl 1:37-40.
Carrier detection and prenatal diagnosis in the three commonest bleeding disorders (hemophilia A and B and von Wilebrands disease) can be performed either phenotypically or genotypically. Phenotypic analysis for carrier detection results only in a probabilistic assessment whereas DNA analysis, either by direct defect detection or by DNA polymorphism based gene tracking, can result in an accuracy of effectively 100%. Direct defect detection is the method of choice but can be technically demanding. Polymorphism analysis is much simpler and is now being used in family studies world wide.
在三种最常见的出血性疾病（甲型和乙型血友病以及血管性血友病）中，携带者检测和产前诊断可以通过表型或基因型方法进行。用于携带者检测的表型分析只能得出概率性评估结果，而DNA分析，无论是通过直接缺陷检测还是基于DNA多态性的基因追踪，都能达到几乎100%的准确率。直接缺陷检测是首选方法，但技术要求较高。多态性分析则简单得多，目前正在全球范围内用于家族研究。
