Hogan Andrew J
University of Pennsylvania, History and Sociology of Science, 303 Claudia Cohen Hall, Philadelphia, PA 19104, United States.
Endeavour. 2012 Jun;36(2):77-84. doi: 10.1016/j.endeavour.2011.12.002. Epub 2012 Jan 16.
What does it look like to be the carrier of a genetic disease? Carrier status may be determined through the visual analysis of both genotypic and phenotypic evidence. Over the past 70 years, clinical geneticists have depended upon multiple strategies for identifying disease carriers within a family. This has included pedigree analysis, which was based upon clinical observations of individual family members and, in recent decades, cytogenetic and molecular methods. Newer techniques have offered novel opportunities to actually see the suspected etiological markers of certain genetic diseases, such as Fragile X syndrome. The visualization of these markers has both clarified and confused previously observed inheritance patterns, in some cases leading to the development of newly distinct diagnostic categories. As a result, what it means to be affected by, or the carrier of, a genetic disease has continuously evolved.
遗传病携带者是什么样的？携带者状态可以通过对基因型和表型证据的视觉分析来确定。在过去70年里，临床遗传学家依靠多种策略在家族中识别疾病携带者。这包括系谱分析，它基于对个体家庭成员的临床观察，以及近几十年来的细胞遗传学和分子方法。新技术为实际观察某些遗传病的疑似病因标记物提供了新机会，比如脆性X综合征。这些标记物的可视化既澄清了又混淆了之前观察到的遗传模式，在某些情况下还导致了新的独特诊断类别的出现。因此，受遗传病影响或成为遗传病携带者的含义一直在不断演变。
