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泰-萨克斯病筛查:参与动机以及遗传学和概率知识

Tay-Sachs screening: motives for participating and knowledge of genetics and probability.

作者信息

Childs B, Gordis L, Kaback M M, Kazazian H H

出版信息

Am J Hum Genet. 1976 Nov;28(6):537-49.

Abstract

A highly-educated, socially aware group of persons presented themselves for Tay-Sachs screening having learned about it mainly from friends, newspapers, radio, and television but not from physicians or rabbis. After learning that screening was possible and deciding that it is in principle a good idea, and after discussing it with relatives and friends but not with physicians and rabbis, they presented themselves for the test. Although the participants knew that Tay-Sachs is a serious disease and that Jews are vulnerable, few of them knew much about the genetics of the disease, its frequency, or the incidence of the carrier state. This experience of screening for Tay-Sachs carriers suggests the need for physicians to learn the relation of genetics to preventive medicine, and for the public to learn more about the biology of man.

摘要

一群受过良好教育、具有社会意识的人前来进行泰-萨克斯病筛查。他们主要是从朋友、报纸、广播和电视上了解到这种筛查,而不是从医生或拉比那里得知。在了解到可以进行筛查并认为这在原则上是个好主意之后,他们与亲戚和朋友讨论了此事,但没有与医生和拉比讨论,然后就前来接受检测。尽管参与者知道泰-萨克斯病是一种严重疾病,且犹太人易患此病,但他们中很少有人对该病的遗传学、发病率或携带者状态的发生率了解很多。这种泰-萨克斯病携带者筛查的经历表明,医生有必要了解遗传学与预防医学的关系,公众也有必要更多地了解人类生物学知识。

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