血友病：携带者检测与产前诊断策略
Haemophilia: strategies for carrier detection and prenatal diagnosis.
作者信息
Peake I R, Lillicrap D P, Boulyjenkov V, Briet E, Chan V, Ginter E K, Kraus E M, Ljung R, Mannucci P M, Nicolaides K
机构信息
Department of Medicine and Pharmacology, Royal Hallamshire Hospital, Sheffield, England.
出版信息
Bull World Health Organ. 1993;71(3-4):429-58.
Abstract
In 1977 WHO published in the Bulletin a Memorandum on Methods for the Detection of Haemophilia Carriers. This was produced following a WHO/WFH (World Federation of Haemophilia) Meeting of Investigators in Geneva in November 1976, and has served as a valuable reference article on the genetics of haemophilia. The analyses discussed were based on phenotypic assessment, which, at that time, was the only procedure available. The molecular biology revolution in genetics during the 1980s made enormous contributions to our understanding of the molecular basis of the haemophilias and now permits precise carrier detection and prenatal diagnosis. WHO and WFH held a joint meeting on this subject in February 1992 in Geneva. This article is the result of these discussions.
摘要
1977年，世界卫生组织在《公报》上发表了一份关于血友病携带者检测方法的备忘录。该备忘录是在1976年11月于日内瓦举行的世界卫生组织/世界血友病联盟（WFH）研究者会议之后编写的，一直是有关血友病遗传学的重要参考文章。所讨论的分析基于表型评估，而在当时，这是唯一可用的方法。20世纪80年代遗传学领域的分子生物学革命极大地促进了我们对血友病分子基础的理解，现在能够进行精确的携带者检测和产前诊断。世界卫生组织和世界血友病联盟于1992年2月在日内瓦就这一主题举行了一次联合会议。本文就是这些讨论的成果。
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