一个在胆碱酯酶基因座1处存在E1j和E1k分离现象的家系。
A family segregating for E1j and E1k at cholinesterase locus 1.
作者信息
Evans R T, Iqbal J, Dietz A A, Lubrano T, Rubinstein H M
出版信息
J Med Genet. 1980 Dec;17(6):464-7. doi: 10.1136/jmg.17.6.464.
Abstract
A family segregating for the A, J, and K alleles at cholinesterase locus 1 is described. Several further examples of the AJ and AK phenotypes occur in this family, and one member of the family, by genetic analysis, is phenotype JK. In relation to possible succinylcholine apnoea, phenotypes AJ, AK, and JK should all be considered vulnerable.
摘要
描述了一个在胆碱酯酶基因座1上分离出A、J和K等位基因的家系。该家系中出现了几个AJ和AK表型的更多实例，并且通过基因分析，该家系的一名成员为JK表型。关于可能的琥珀酰胆碱呼吸暂停，AJ、AK和JK表型都应被视为易患型。
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本文引用的文献
1
A pheudocholinesterase variant in human tissues.
Nature. 1963 Jun 15;198:1090-1. doi: 10.1038/1981090a0.
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A new pseudocholinesterase phenotype?一种新的假性胆碱酯酶表型？
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Differential inhibition of human serum cholinesterase with fluoride: recognition of two new phenotypes.氟化物对人血清胆碱酯酶的差异抑制作用：两种新表型的识别。
Nature. 1961 Jul 29;191:496-8. doi: 10.1038/191496a0.
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A method for the detection of atypical forms of human serum cholinesterase; determination of dibucaine numbers.一种检测人血清胆碱酯酶非典型形式的方法；地布卡因值的测定。
Can J Biochem Physiol. 1957 Jun;35(6):339-46. doi: 10.1139/y57-041.
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Improved method for the differentiation of cholinesterase variants.胆碱酯酶变体鉴别方法的改进
Am J Hum Genet. 1972 Jan;24(1):58-64.
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Silent cholinesterase gene: variations in the properties of serum enzyme in apparent homozygotes.沉默胆碱酯酶基因：明显纯合子血清酶特性的变异
J Clin Invest. 1970 Mar;49(3):479-86. doi: 10.1172/JCI106257.
7
Inheritance of two types of deficiency of human serum cholinesterase.人类血清胆碱酯酶两种类型缺乏症的遗传
Ann Hum Genet. 1973 Oct;37(2):139-43. doi: 10.1111/j.1469-1809.1973.tb01821.x.
8
9
New allele at cholinesterase locus 1.胆碱酯酶基因座1处的新等位基因。
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10
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