泰-萨克斯病：查尔斯顿犹太社区中检测杂合子的一项试点筛查计划。
Tay-Sachs disease: a pilot screening program for the detection of the heterozygote in the Charleston Jewish community.
作者信息
Rogers J F, Hogan E L, Jorgenson R J
出版信息
South Med J. 1976 Nov;69(11):1453-5.
A pilot screening program for the detection of the carrier (heterozygote) of the Tay-Sachs disease (TSD) gene has recently been completed at the Medical University of South Carolina. A fluorometric assay for serum hexosaminidase A and B was performed on the serum of 181 individuals from the Charleston Jewish community. One hundred seventy-six of these individuals were classified as normal based on the percent hexosaminidase A (Hex A) in their serum; five persons were classified as carriers of the Tay-Sachs gene, including a young married couple who were later referred for genetic counseling.
南卡罗来纳医科大学最近完成了一项针对检测泰-萨克斯病（TSD）基因携带者（杂合子）的初步筛查项目。对查尔斯顿犹太社区的181人的血清进行了血清己糖胺酶A和B的荧光测定。根据血清中己糖胺酶A（Hex A）的百分比，其中176人被分类为正常；5人被分类为泰-萨克斯基因的携带者，其中包括一对年轻夫妇，他们后来被转介接受遗传咨询。
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