通过检测白细胞中的α-L-艾杜糖醛酸酶来检测黏多糖贮积症Ⅰ型的携带者状态。
Detection of the carrier state of Hurler's syndrome by assay of alpha-L-iduronidase in leukocytes.
作者信息
Dulaney J T, Milunsky A, Moser H W
出版信息
Clin Chim Acta. 1976 Jun 1;69(2):305-10. doi: 10.1016/0009-8981(76)90509-x.
The mean specific activity of alph-L-iduronidase in leukocytes from six obligate heterozygotes for Hurler's syndrome was found to be slightly less than one-half of the mean in normal controls; no overlap of normal and known heterozygote values was encountered. The assay has been applied with success to six potential heterozygotes, siblings of a child with Hurler's syndrome. Thus heterozygote detection of Hurler's syndrome is clearly possible; this finding, as well as the ready availability of leukocytes for screening tests, recommends their use for examination of potential carrier status in this disorder.
在六名黏多糖贮积症Ⅰ型（Hurler综合征）的 obligate 杂合子的白细胞中，α-L-艾杜糖醛酸酶的平均比活性略低于正常对照组平均值的一半；正常和已知杂合子的值没有重叠。该检测方法已成功应用于六名潜在杂合子，即一名Hurler综合征患儿的兄弟姐妹。因此，Hurler综合征的杂合子检测显然是可行的；这一发现，以及白细胞易于获取用于筛查试验，推荐使用白细胞来检测该疾病的潜在携带者状态。
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