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血浆胆碱酯酶:基因与变异

Plasma cholinesterase: gene and variations.

作者信息

Pantuck E J

机构信息

Department of Anesthesiology, College of Physicians and Surgeons, Columbia University, New York, New York.

出版信息

Anesth Analg. 1993 Aug;77(2):380-6. doi: 10.1213/00000539-199377020-00027.

Abstract

The traditional tests that have been used for the past 30 yr to determine plasma cholinesterase phenotype--measurement of esterase activity with a variety of substrates, dibucaine inhibition, fluoride inhibition, and Ro2-0683 inhibition--are inadequate for identifying some variants of this enzyme and leave many cases of prolonged response to succinylcholine unexplained. The application of the techniques of molecular genetics has permitted precise identification of plasma cholinesterase variants and has resulted in the discovery of previously unrecognized variants. It is now possible, in cases of prolonged response to succinylcholine resulting from genetically determined alterations in plasma cholinesterase, to ascertain the nature of the mutations in the alleles, and from them to deduce the structural changes in the enzymes responsible for the impairment in drug metabolism.

摘要

在过去30年里用于确定血浆胆碱酯酶表型的传统检测方法——用各种底物测量酯酶活性、丁卡因抑制、氟化物抑制和Ro2-0683抑制——不足以识别该酶的某些变体,并且许多对琥珀酰胆碱反应延长的病例无法得到解释。分子遗传学技术的应用使得血浆胆碱酯酶变体得以精确识别,并导致发现了以前未被认识的变体。现在,对于因血浆胆碱酯酶的基因决定改变而导致对琥珀酰胆碱反应延长的病例,可以确定等位基因中的突变性质,并由此推断负责药物代谢受损的酶的结构变化。

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