通过检测淋巴细胞中的溶酶体唾液酸酶对伴有部分β-半乳糖苷酶缺乏的涎酸贮积症进行携带者检测。
Carrier detection of sialidosis with partial beta-galactosidase deficiency by the assay of lysosomal sialidase in lymphocytes.
作者信息
Tsuji S, Yamada T, Ariga T, Toyoshima I, Yamaguchi H, Kitahara Y, Miyatake T, Yamakawa T
出版信息
Ann Neurol. 1984 Feb;15(2):181-3. doi: 10.1002/ana.410150211.
Lysosomal and plasma membrane sialidase activities in lymphocytes were studied in four patients with sialidosis with partial beta-galactosidase deficiency, four obligate heterozygotes, and three siblings of a patient. Lysosomal sialidase activity in homozygotes was absent, and that in heterozygotes was significantly decreased to 70% of control level. The results indicate that carriers can be detected by the assay of lysosomal sialidase activity of lymphocytes.
对4例伴有部分β-半乳糖苷酶缺乏的唾液酸沉积症患者、4例必然杂合子以及1例患者的3个同胞的淋巴细胞中的溶酶体和质膜唾液酸酶活性进行了研究。纯合子中溶酶体唾液酸酶活性缺失，杂合子中的溶酶体唾液酸酶活性显著降低至对照水平的70%。结果表明，通过检测淋巴细胞的溶酶体唾液酸酶活性可以检测出携带者。
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