异染性脑白质营养不良中的芳基硫酸酯酶同工酶/通过电泳改进定量测定法检测一种新变体
Arylsulfatases isoenzymes in metachromatic leucodystrophy/detection of a new variant by electrophoresis improvement of quantitative assay.
作者信息
Dubois G, Turpin J C, Baumann N
出版信息
Biomedicine. 1975 Apr 10;23(3):116-9.
PMID:4167
Abstract
Arylsulfatase A and B activities were assayed in leucocytes of 43 controls, 11 cases of Metachromatic Leucodystrophy and 7 parents or siblings of patients, using a new technique implying specific inhibitors for leucocyte enzymes. Heterozygotes can be determined, with a 50% value compared to the control, in variant B. Electrophoresis of leucocytes after enzymatic staining for arylsulfatase, is a complementary technique which allowed the detection of a new form of metachromatic leucodystrophy.
摘要
采用一种针对白细胞酶的新型特异性抑制剂技术，对43名对照者、11例异染性脑白质营养不良患者以及7名患者的父母或兄弟姐妹的白细胞中的芳基硫酸酯酶A和B活性进行了测定。在变异型B中，杂合子可通过与对照相比50%的值来确定。对白细胞进行芳基硫酸酯酶酶促染色后的电泳是一种补充技术，可检测到一种新形式的异染性脑白质营养不良。
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