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通过等电聚焦鉴定人红细胞谷丙转氨酶(GPT)表型

Identification of human red cell glutamate-pyruvate transaminase (GPT) phenotypes by isoelectric focusing.

作者信息

Pelzer C F, Norum R A

出版信息

Am J Hum Genet. 1985 Jan;37(1):147-52.

PMID:3976656
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1684545/
Abstract

Isoenzymes of human red cell glutamate-pyruvate transaminase (GPT) were resolved by isoelectric focusing (IEF) of hemolysates in polyacrylamide gels at pH 5.0-7.0. The bands of enzyme activity required both alpha-ketoglutarate and L-alanine in the staining mixture for visualization, indicating that the bands were not lactate dehydrogenase or glutamate dehydrogenase. Phenotyping of 41 individuals by IEF, including types GPT 1, 2A, 1-2A, 1-2B, and 2A-2B, agreed with the typing results obtained by electrophoresis in starch gels and in polyacrylamide gels at acid and alkaline pH. Analysis of one kindred demonstrated autosomal codominant transmission of the rare GPT*2B gene through 3 generations. IEF facilitates phenotyping by permitting identification of the GPT types on a single gel with a considerable reduction in time and cost. Although no new variants were found in this investigation, IEF may be more powerful for the recognition of presently undetected variants of GPT.

摘要

通过在pH 5.0 - 7.0的聚丙烯酰胺凝胶中对溶血产物进行等电聚焦(IEF),分离出了人红细胞谷丙转氨酶(GPT)的同工酶。酶活性条带在染色混合物中需要α-酮戊二酸和L-丙氨酸才能显色,这表明这些条带不是乳酸脱氢酶或谷氨酸脱氢酶。通过IEF对41个人进行表型分析,包括GPT 1、2A、1 - 2A、1 - 2B和2A - 2B型,结果与在淀粉凝胶以及酸性和碱性pH条件下的聚丙烯酰胺凝胶中进行电泳所获得的分型结果一致。对一个家系的分析表明,罕见的GPT*2B基因以常染色体共显性方式传递了3代。IEF通过允许在单一凝胶上鉴定GPT类型,极大地减少了时间和成本,从而便于进行表型分析。尽管在本次研究中未发现新的变异体,但IEF对于识别目前未检测到的GPT变异体可能更具效力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adb7/1684545/4b391b750e7c/ajhg00156-0151-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adb7/1684545/4b391b750e7c/ajhg00156-0151-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adb7/1684545/4b391b750e7c/ajhg00156-0151-a.jpg

相似文献

1
Identification of human red cell glutamate-pyruvate transaminase (GPT) phenotypes by isoelectric focusing.通过等电聚焦鉴定人红细胞谷丙转氨酶(GPT)表型
Am J Hum Genet. 1985 Jan;37(1):147-52.
2
Genetic polymorphism of red cell glutamate-pyruvate transaminase in Japanese.日本人红细胞谷丙转氨酶的遗传多态性
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Glutamate-pyruvate transaminase (GPT) variant found in a disputed paternity case.在一宗有争议的亲子鉴定案中发现的谷氨酸丙酮酸转氨酶(GPT)变异体。
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Two previously undetected variants of glutamic-pyruvic transaminase found by acidic polyacrylamide gel electrophoresis.通过酸性聚丙烯酰胺凝胶电泳发现了两种先前未检测到的谷丙转氨酶变体。
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Glutamate-pyruvate transaminase subtypes in Singapore ethnic groups.新加坡不同种族中的谷氨酸丙酮酸转氨酶亚型。
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Agarose gel electrophoresis of human erythrocyte glutamic-pyruvic transaminase (GPT EC 2.6.1.2).人红细胞谷丙转氨酶(GPT,酶编号2.6.1.2)的琼脂糖凝胶电泳。
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Human red cell GPT polymorphism: comparison of the activities among different phenotypes using pyruvate and L-glutamate as substrates.人类红细胞谷丙转氨酶多态性:以丙酮酸和L-谷氨酸为底物比较不同表型间的活性
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Comparative studies on the human glutamate-pyruvate transaminase phenotypes--GPT 1, GPT 2-1, GPT 2.
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[Glutamate pyruvate transaminase (GPT): a new demonstration method using agarose electrophoresis].[谷氨酸丙酮酸转氨酶(GPT):一种使用琼脂糖电泳的新演示方法]
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Genetic polymorphism of glutamate-pyruvate transaminase (alanine aminotransaminase): influence on erythrocyte activity as a marker of vitamin B-6 nutritional status.谷氨酸丙酮酸转氨酶(丙氨酸转氨酶)的基因多态性:对作为维生素B-6营养状况标志物的红细胞活性的影响。
Am J Clin Nutr. 1989 Dec;50(6):1420-8. doi: 10.1093/ajcn/50.6.1420.

引用本文的文献

1
The sensitivity of isoelectric focusing and electrophoresis in the detection of sequence differences in proteins.等电聚焦和电泳在检测蛋白质序列差异方面的灵敏度。
Biochem Genet. 1986 Aug;24(7-8):571-7. doi: 10.1007/BF00504335.

本文引用的文献

1
Absence of red cell glutamic-pyruvate transaminase: discovery of a "silent" allele homozygote.红细胞谷丙转氨酶缺乏:“沉默”等位基因纯合子的发现。
Am J Hum Genet. 1980 Jan;32(1):42-6.
2
An alternate method for demonstration of erythrocytic aminotransferases on starch gels.一种在淀粉凝胶上展示红细胞氨基转移酶的替代方法。
Am J Hum Genet. 1981 Jul;33(4):561-3.
3
Two previously undetected variants of glutamic-pyruvic transaminase found by acidic polyacrylamide gel electrophoresis.通过酸性聚丙烯酰胺凝胶电泳发现了两种先前未检测到的谷丙转氨酶变体。
Am J Hum Genet. 1982 Jul;34(4):623-9.
4
Extension of human acid alpha-glucosidase polymorphism by isoelectric focusing in polyacrylamide gel.通过聚丙烯酰胺凝胶等电聚焦扩展人类酸性α-葡萄糖苷酶多态性
Ann Hum Genet. 1982 May;46(2):97-103. doi: 10.1111/j.1469-1809.1982.tb00700.x.
5
Subtyping of properdin factor B (Bf) by isoelectrofocusing.通过等电聚焦对备解素因子B(Bf)进行亚型分型。
Hum Hered. 1982;32(5):362-6. doi: 10.1159/000153323.
6
Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.通过等电聚焦对1-磷酸半乳糖尿苷酰转移酶(EC 2.7.7.12)的正常和异常变体进行表征。
Hum Genet. 1983;63(3):274-9. doi: 10.1007/BF00284663.
7
Polymorphism of soluble glutamic-pyruvic transaminase: a new genetic marker in man.可溶性谷丙转氨酶的多态性:人类一种新的遗传标记。
Science. 1971 Jul 9;173(3992):148-9. doi: 10.1126/science.173.3992.148.
8
Genetics of glutamic-pyruvic transaminase: its inheritance, common and rare variants, population distribution, and differences in catalytic activity.谷丙转氨酶的遗传学:其遗传方式、常见和罕见变异体、群体分布以及催化活性差异。
Ann Hum Genet. 1972 Apr;35(4):401-9.
9
Claim that two human linkage groups carry different loci for GPT and LDH withdrawn.
Nature. 1974 May 17;249(454):279-80. doi: 10.1038/249279a0.
10
Two rare GPT phenotypes in a Norwegian family. Evidence of a seventh allele.挪威一个家族中的两种罕见谷丙转氨酶(GPT)表型。存在第七个等位基因的证据。
Humangenetik. 1973 Sep 20;19(3):289-91. doi: 10.1007/BF00278405.