正常受试者以及患有戈谢病和法布里病患者的白细胞和血小板中的酸性水解酶。
Acid hydrolases in leukocytes and platelets of normal subjects and in patients with Gaucher's and Fabry's disease.
作者信息
Beutler E, Kuhl W, Matsumoto F, Pangalis G
出版信息
J Exp Med. 1976 Apr 1;143(4):975-80. doi: 10.1084/jem.143.4.975.
Lymphocytes, monocytes, neutrophilic granulocytes and platelets were each separated to greater than 95% purity from six normal subjects, three patients with Gaucher's disease, two heterozygotes for Gaucher's disease, and one patient with Fabry's disease. Activities of the following acid hydrolases were determined: "acid" (pH 4.0) beta-glucosidase, pH 5.0 beta-glucosidase, alpha-galactosidase, alpha-arabinosidase, alpha-mannosidase, alpha-glucosidase, beta-glucuronidase, beta-galactosidase, beta-hexosaminidase, and acid phosphatase. Enzymatic activity varied greatly with cell type and the enzyme being measured; the importance of assaying pure preparations especially for heterozygote detection is emphasized. Gaucher's disease patients' cells were found to be deficient in the pH 4.0 acid beta-glucosidase, variable in the pH 5.0 beta-glucosidase, and normal in all other acid hydrolases tested, including acid phosphatase, the activity of which is known to be elevated in plasma. Blood cells of a patient with Fabry's disease were deficient in alpha-galactosidase and normal in all other acid hydrolases tested.
从6名正常受试者、3名戈谢病患者、2名戈谢病杂合子以及1名法布里病患者中分别分离出纯度高于95%的淋巴细胞、单核细胞、嗜中性粒细胞和血小板。测定了以下酸性水解酶的活性：“酸性”（pH 4.0）β-葡萄糖苷酶、pH 5.0β-葡萄糖苷酶、α-半乳糖苷酶、α-阿拉伯糖苷酶、α-甘露糖苷酶、α-葡萄糖苷酶、β-葡萄糖醛酸酶、β-半乳糖苷酶、β-己糖胺酶和酸性磷酸酶。酶活性随细胞类型和所测酶的不同而有很大差异；强调了检测纯制剂尤其是用于杂合子检测的重要性。发现戈谢病患者的细胞缺乏pH 4.0酸性β-葡萄糖苷酶，pH 5.0β-葡萄糖苷酶活性可变，而在所有其他测试的酸性水解酶（包括已知血浆中活性升高的酸性磷酸酶）中正常。法布里病患者的血细胞缺乏α-半乳糖苷酶，而在所有其他测试的酸性水解酶中正常。
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