桑德霍夫病的携带者检测。
Carrier detection in Sandhoff disease.
作者信息
Lowden J A, Ives E J, Keene D L, Burton A L, Skomorowski M A, Howard F
出版信息
Am J Hum Genet. 1978 Jan;30(1):38-45.
Abstract
Three new cases of Sandhoff disease are reported. One infant was the second affected child in a large family. The parents, who were cousins, were part of a large kindred from an isolated community in northern Saskatchewan. We assayed total and heat-stable hexosaminidases in 38 other members of the kindred and found two distinct cohorts. Sixteen individuals had low total and low heat-stable hexosaminidase and were diagnosed as carriers of Sandhoff disease. The values for the remainder were within normal limits. In a retrospective study of data from more than 14,000 Ashkenazi Jews, who were screened for Tay-Sachs disease, six were identified as Sandhoff carriers. Our data indicate that carrier detection requires measurement of both total and heat-stable enzyme activity.
摘要
报告了3例新的桑德霍夫病病例。一名婴儿是一个大家庭中第二个患病的孩子。其父母是表亲，来自萨斯喀彻温省北部一个与世隔绝社区的一个大家族。我们对该家族的其他38名成员进行了总己糖胺酶和热稳定己糖胺酶检测，发现了两个不同的群体。16人总己糖胺酶和热稳定己糖胺酶水平较低，被诊断为桑德霍夫病携带者。其余人的检测值在正常范围内。在一项对超过14000名接受泰-萨克斯病筛查的德系犹太人的数据进行的回顾性研究中，有6人被确定为桑德霍夫病携带者。我们的数据表明，携带者检测需要同时测量总酶活性和热稳定酶活性。
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