PDF(Pubmed)
Abstract：
\"Obvious\" recessive inheritance of Tay-Sachs disease (TSD; OMIM # 272800) took over half a century to be established. Points now taken for granted were problematic, that: (1) TSD is a biological entity, not an artificial selection of concurrent findings, (2) manifestations have narrow limits, (3) it was not part of a spectrum of disorders, and can be differentiated from other conditions, (4) it will not change to another disease, (5) it is due to a single specific gene, (6) there are no secondary causes, (7) the gene has no apparent clinical effects unrelated to TSD, and (8) the gene is inherited only as a clinical recessive. To a large extent, resolution reflected biochemical understanding that took until mid-20th century, and beyond, to change how physicians viewed diseases in general. With this, biochemical carrier screening and prenatal biochemical diagnosis have become routinely available, and it is a model for carrier population screening, while gene therapy for the disease has been reported with some degree of success. Here, the history of medical ideas about TSD and its inheritance are reviewed to show how it achieved its current status as a distinct recessive disorder.
摘要：
Tay-Sachs病（TSD；OMIM＃272800）的“明显”隐性遗传历时半个世纪。现在认为理所当然的观点是有问题的，(1)TSD是一个生物实体，不是人为选择并发发现，(2)表现形式有狭窄的界限，（3）它不是一系列疾病的一部分，并且可以与其他条件区分开来，（4）它不会变成另一种疾病，（5）它是由于单一的特定基因，（6）没有次要原因，(7)该基因与TSD无明显临床效应无关,并且(8)该基因仅作为临床隐性遗传。在很大程度上,决议反映了直到20世纪中叶的生化理解，超越，改变医生对疾病的看法。有了这个,生化载体筛查和产前生化诊断已成为常规，这是一个携带者群体筛查的模型，而对该疾病的基因疗法已被报道有一定程度的成功。这里,回顾了有关TSD及其遗传的医学观念的历史，以表明它是如何实现其作为一种独特的隐性疾病的现状的。
