Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema.
Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema.
复制标题
遗传性血管神经性水肿患者中 C1 酯酶抑制剂的遗传异质性。
DOI：
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发表时间：
1971
影响因子：
15.9
通讯作者：
V. Donaldson
中科院分区：
文献类型：
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作者：
F. Rosen;C. Alper;J. Pensky;M. Klemperer;V. Donaldson
用免疫化学方法估计，正常人血清含有18+/-5 mg/100毫升的C1酯酶抑制物(α-2神经氨基糖蛋白)。在118例遗传性血管神经性水肿患者中，来自42个家系的80例患者的血清平均浓度为3.15 mg/100ml，为正常值的17.5%。另有7个家系的35例患者平均血药浓度为20 mg/100ml，为正常血药浓度的111%，另一个家系中有3例血药浓度超过80 mg/100ml或超过正常血药浓度的400%。经Ouchterlone分析，这8个家系患者血清中的无功能抑制物与正常的C1酯酶抑制物相同，但它们的凝胶迁移率、结合C1酯酶的能力以及抑制N-乙酰酪氨酸乙酯的酯解能力与正常和彼此不同。
Normal human serum contains 18 +/-5 mg/100 ml of C1 esterase inhibitor (alpha-2 neuraminoglycoprotein) as estimated by immunochemical means. Of 118 patients with hereditary angioneurotic edema, the sera of 80, from 42 kindred, contained a mean concentration of 3.15 mg/100 ml or 17.5% of normal. The mean serum concentration in 35 patients in 7 other kindred was 20 mg/100 ml or 111% of normal, and 3 patients in another kindred contained over 80 mg/100 ml or greater than 400% of normal. The nonfunctional inhibitors in patients' sera of these eight kindred were identical with normal C1 esterase inhibitor by Ouchterlony analysis, but they were different from normal and from each other with respect to their electrophoretic mobility, their capacity to bind C1 esterase, and their ability to inhibit esterolysis of N-acetyl-tyrosine-ethylester.