Natowicz M R, Prence E M
Division of Medical Genetics, E.K. Shriver Center, Waltham, MA 02254, USA.
Curr Opin Pediatr. 1996 Dec;8(6):625-9. doi: 10.1097/00008480-199612000-00014.
Tay-Sachs disease (TSD) is an autosomal recessive, neurodegenerative disorder caused by a deficiency of beta-hexosaminidase A activity. Mass screening for TSD heterozygotes has been routine in the Ashkenazi Jewish population since the early 1970s. Recent advances in the molecular genetics and epidemiology of TSD require a reevaluation of heterozygote screening practices. The use of DNA-based analyses for a panel of common mutations detects about 98% of TSD mutations found in the Ashkenazi Jews and about 50% of TSD mutations found in the general non-Jewish population; enzyme-based analysis has nearly 100% sensitivity for all populations. We recommend 1) that members of several ethnic groups and persons with a family history consistent with TSD be offered testing for TSD heterozygosity and 2) that assays of enzyme activity be used as the primary screening tool, with mutation analysis used as an adjunct tool in certain cases.
泰-萨克斯病（TSD）是一种常染色体隐性神经退行性疾病，由β-己糖胺酶A活性缺乏引起。自20世纪70年代初以来，对TSD杂合子进行群体筛查在阿什肯纳兹犹太人群体中已成为常规操作。TSD分子遗传学和流行病学的最新进展要求对杂合子筛查实践进行重新评估。使用基于DNA的分析方法检测一组常见突变，可检测出在阿什肯纳兹犹太人中发现的约98%的TSD突变以及在一般非犹太人群体中发现的约50%的TSD突变；基于酶的分析对所有群体的敏感性接近100%。我们建议：1）向几个种族群体的成员以及有与TSD相符的家族病史的人提供TSD杂合性检测；2）将酶活性检测用作主要筛查工具，在某些情况下将突变分析用作辅助工具。
