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遗传性疾病的预期:一个生物医学概念的历史。

Anticipation in hereditary disease: the history of a biomedical concept.

机构信息

Office of History, National Institutes of Health, Bldg 45, 3AN38, MSC 6330, Bethesda, MD 20892-6330, USA.

出版信息

Hum Genet. 2011 Dec;130(6):705-14. doi: 10.1007/s00439-011-1022-9. Epub 2011 Jun 12.

Abstract

In the mid-nineteenth century, it was commonly believed that hereditary disease struck at the same time in succeeding generations, except for those cases in which it appeared at an earlier age. This exception to the rule was the precursor for the concept of anticipation in hereditary disease, a pattern of inheritance where a hereditary illness strikes earlier and often more severely in succeeding generations. Anticipation underwent cycles of acceptance and rejection over the course of the twentieth century and the ways in which this concept was received reveal complex interactions between science, medicine, and society.

摘要

在 19 世纪中叶,人们普遍认为遗传性疾病会在随后的几代中同时出现,除非它在更早的年龄出现。这种例外情况是遗传性疾病中预见概念的前身,即遗传性疾病在随后的几代中更早且往往更严重地出现的遗传模式。在 20 世纪,预见经历了接受和拒绝的循环,这个概念的接受方式揭示了科学、医学和社会之间的复杂相互作用。

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