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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.

DOI:10.1136/jmg.17.6.464
PMID:7205429
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1885923/
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。

相似文献

1
A family segregating for E1j and E1k at cholinesterase locus 1.一个在胆碱酯酶基因座1处存在E1j和E1k分离现象的家系。
J Med Genet. 1980 Dec;17(6):464-7. doi: 10.1136/jmg.17.6.464.
2
[Phenotype of plasma cholinesterase in prolonged apnea and sensitivity to succinylcholine].[长时间呼吸暂停时血浆胆碱酯酶的表型及对琥珀酰胆碱的敏感性]
Cah Anesthesiol. 1987 Dec;35(8):601-5.
3
Succinylcholine sensitivity in a Nova Scotia family.新斯科舍省一个家族中的琥珀酰胆碱敏感性
Can Anaesth Soc J. 1978 Jan;25(1):53-9. doi: 10.1007/BF03006785.
4
New allele at cholinesterase locus 1.胆碱酯酶基因座1处的新等位基因。
J Med Genet. 1976 Feb;13(1):38-42. doi: 10.1136/jmg.13.1.38.
5
Reversal of prolonged suxamethonium apnoea with fresh frozen plasma in a 6-week-old infant.6周龄婴儿使用新鲜冰冻血浆逆转琥珀酰胆碱所致的长时间呼吸暂停
Anaesthesia. 1991 Dec;46(12):1036-8. doi: 10.1111/j.1365-2044.1991.tb09917.x.
6
[Succinyldicholin sensitivity resulting from genetically determined serumcholinesterase variants].
Prakt Anaesth. 1976 Oct;11(5):339-46.
7
Apnoea following suxamethonium: the genetic study of four generations of a family.琥珀酰胆碱后的呼吸暂停：一个家族四代人的遗传学研究
J Med Genet. 1982 Feb;19(1):22-5. doi: 10.1136/jmg.19.1.22.
8
[Familial examinations for the presence of atypical cholinesterase].[对非典型胆碱酯酶存在情况的家族性检查]
Ned Tijdschr Geneeskd. 1975 Oct 4;119(40):1544-7.
9
[A case of succinylcholine apnea. Identification of genetic variants].
Ann Anesthesiol Fr. 1979;20(2):109-12.
10
[A rare case of silent cholinesterase genetic variant (author's transl)].[一例罕见的沉默型胆碱酯酶基因变异病例（作者译）]
Med Clin (Barc). 1980 Oct 25;75(7):309-11.

引用本文的文献

1
A PCR based method to determine the Kalow allele of the cholinesterase gene: the E1k allele frequency and its significance in the normal population.一种基于聚合酶链反应的方法来确定胆碱酯酶基因的卡洛等位基因：E1k等位基因频率及其在正常人群中的意义。
J Med Genet. 1994 Mar;31(3):248-50. doi: 10.1136/jmg.31.3.248.
2
On the identification and frequency of the J and K cholinesterase phenotypes in a Caucasian population.关于白种人群中J和K胆碱酯酶表型的鉴定及频率
J Med Genet. 1984 Apr;21(2):99-102. doi: 10.1136/jmg.21.2.99.
3
Identification of the E1fE1k cholinesterase genotype.E1fE1k胆碱酯酶基因型的鉴定。
J Med Genet. 1988 Aug;25(8):554-6. doi: 10.1136/jmg.25.8.554.
4
DNA mutations associated with the human butyrylcholinesterase J-variant.与人类丁酰胆碱酯酶J变体相关的DNA突变。
Am J Hum Genet. 1992 May;50(5):1104-14.

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.
2
A new pseudocholinesterase phenotype?一种新的假性胆碱酯酶表型？
Acta Genet Stat Med. 1960;10:241-6. doi: 10.1159/000151128.
3
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.
4
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.
5
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.
6
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
Colorimetric determination of serum cholinesterase and its genetic variants by the propionylthiocholine-dithiobis(nitrobenzoic acid)procedure.
Clin Chem. 1973 Nov;19(11):1309-13.
9
New allele at cholinesterase locus 1.胆碱酯酶基因座1处的新等位基因。
J Med Genet. 1976 Feb;13(1):38-42. doi: 10.1136/jmg.13.1.38.
10
E1j, a quantitative variant at cholinesterase locus 1: immunological evidence.胆碱酯酶基因座1处的定量变异体E1j：免疫学证据
J Med Genet. 1976 Feb;13(1):43-5. doi: 10.1136/jmg.13.1.43.