Enzymological and immunochemical properties of a silent type hypocholinesterasemia with double heterozygote.
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概要
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We examined one family with a silent type hypocholinesterasemia, by using electrophoretic analysis and immunochemical method. Total cholinesterase (ChE; EC 3.1.1.8) level in serum of the propositus was only 2% of the lower limit of normal range. The ChE electrophoretogram of the patient had the five bands of the ChE-1, ChE-2, ChE-3, ChE-4, and ChE-5 as in normal serum. However, the activity of the ChE-5 band was markedly weak. The ChE of the patient showed much larger Km value for butyrylthiocholine iodide than normal value. On the other hand, the Hill's number of the patient's ChE was within normal limits. Therefore, the patient's ChE had the allosteric property with a negative cooperativity. The production of ChE protein was decreased to about one half of normal level according to the rocket immunoelectrophoresis. A part of the protein was seemed to show ChE activity. From these facts, it could be considered that the propositus in this family may be a double heterozygote with S1 gene (type I) and S2 gene (type II) of the silent type.
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