I型酪氨酸血症：在组织和细胞提取物中缺乏免疫可检测的延胡索酰乙酰乙酸酶蛋白。
Type I tyrosinemia: lack of immunologically detectable fumarylacetoacetase enzyme protein in tissues and cell extracts.
作者信息
Berger R, Van Faassen H, Taanman J W, De Vries H, Agsteribbe E
机构信息
University of Groningen, Department of Pediatrics, The Netherlands.
出版信息
Pediatr Res. 1987 Oct;22(4):394-8. doi: 10.1203/00006450-198710000-00005.
Type I hereditary tyrosinemia is characterized by the almost complete absence of fumarylacetoacetase in tissues and cells from patients. To investigate the nature of the enzyme deficiency, extracts of tissues (liver and kidney) and cells (lymphocytes and fibroblasts) were immunochemically screened for the presence of fumarylacetoacetase enzyme protein. The antibodies used were raised in rabbits against fumarylacetoacetase purified from beef liver. These antibodies cross-reacted strongly with the human enzyme. No cross-reacting material was found in extracts from liver (n = 4) and kidney (n = 1) from patients. Extracts from lymphocytes and cultured skin fibroblasts from patients were investigated as well. However, no cross-reacting material was found in extracts of these cells.
I型遗传性酪氨酸血症的特征是患者组织和细胞中几乎完全缺乏延胡索酰乙酰乙酸酶。为了研究酶缺乏的本质，对组织（肝脏和肾脏）和细胞（淋巴细胞和成纤维细胞）提取物进行免疫化学筛选，以检测延胡索酰乙酰乙酸酶蛋白的存在。所用抗体是用兔抗从牛肉肝脏纯化的延胡索酰乙酰乙酸酶制备的。这些抗体与人类酶发生强烈交叉反应。在4例患者的肝脏提取物和1例患者的肾脏提取物中未发现交叉反应物质。也对患者的淋巴细胞和培养的皮肤成纤维细胞提取物进行了研究。然而，在这些细胞的提取物中未发现交叉反应物质。
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