Plasma Cholinesterase: Gene and Variations

Plasma Cholinesterase: Gene and Variations
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血浆胆碱酯酶:基因和变异

DOI:
10.1213/00000539-199308000-00027
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发表时间:
1993
影响因子:
5.7
通讯作者:
E. Pantuck
E. Pantuck
中科院分区:
医学2区
文献类型:
--
作者:
E. Pantuck

文献摘要

被引文献

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在过去的30年中,传统的测试已被用于确定血浆胆碱酯酶表型-测量酯酶活性与各种底物,地布卡因抑制,氟化物抑制,和Ro 2 -0683抑制-是不足以识别这种酶的一些变种,并留下许多情况下,琥珀酰胆碱的长期反应无法解释。分子遗传学技术的应用已允许精确鉴定血浆胆碱酯酶变体,并导致发现以前未被识别的变体。现在,在由血浆胆碱酯酶的遗传决定的改变引起的对琥珀酰胆碱的反应延长的情况下,可以确定等位基因突变的性质,并从它们推断出负责药物代谢损害的酶的结构变化。
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.