Kaplan F
McGill University-Montreal Children's Hospital Research Institute, Quebec, Canada.
Genet Test. 1998;2(4):271-92. doi: 10.1089/gte.1998.2.271.
Tay-Sachs disease (TSD) is an autosomal-recessive, progressive, and ultimately fatal neurodegenerative disorder. Within the last 30 years, the discovery of the enzymatic basis of the disease, namely deficiency of the enzyme hexosaminidase A, made possible both enzymatic diagnosis of TSD and heterozygote identification. In the last decade, the cloning of the HEXA gene and the identification of more than 80 associated TSD-causing mutations has permitted molecular diagnosis in many instances. TSD was the first genetic condition for which community-based screening for carrier detection was implemented. As such, the TSD experience can be viewed as a prototypic effort for public education, carrier testing, and reproductive counseling for avoiding fatal childhood disease. More importantly, the outcome of TSD screening over the last 28 years offers convincing evidence that such an effort can dramatically reduce incidence of the disease.
泰-萨克斯病（TSD）是一种常染色体隐性、进行性且最终致命的神经退行性疾病。在过去30年里，该疾病酶学基础的发现，即己糖胺酶A的缺乏，使得TSD的酶学诊断和杂合子鉴定成为可能。在过去十年中，HEXA基因的克隆以及80多种相关的导致TSD的突变的鉴定，在许多情况下实现了分子诊断。TSD是首个实施基于社区的携带者检测筛查的遗传疾病。因此，TSD的经验可被视为公众教育、携带者检测以及避免致命儿童疾病的生殖咨询的典型范例。更重要的是，过去28年TSD筛查的结果提供了令人信服的证据，表明这样的努力可以显著降低该疾病的发病率。
