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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。

Two previously undetected variants of glutamic-pyruvic transaminase found by acidic polyacrylamide gel electrophoresis.

作者信息

McLellan T

出版信息

Am J Hum Genet. 1982 Jul;34(4):623-9.

PMID:7102676
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1685356/
Abstract

Two new electrophoretic variants of glutamic-pyruvic transaminase (GPT) have been found by polyacrylamide gel electrophoresis at acidic pH. They appeared to represent a single allele, GPT 2, by the standard method of starch gel electrophoresis. Studies in families show that they are inherited as codominant alleles at the GPT locus. Population frequencies are about the same as those of other rare GPT variants. Their behavior on gels is consistent with both of them having substitutions of histidines in place of uncharged amino acids.

摘要

通过在酸性pH条件下的聚丙烯酰胺凝胶电泳，发现了谷氨酸丙酮酸转氨酶（GPT）的两种新的电泳变体。按照淀粉凝胶电泳的标准方法，它们似乎代表了一个单一的等位基因，即GPT 2。对家族的研究表明，它们在GPT基因座上作为共显性等位基因遗传。群体频率与其他罕见的GPT变体大致相同。它们在凝胶上的行为与两者都用组氨酸取代不带电荷的氨基酸的情况一致。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f882/1685356/8ad64ed3256f/ajhg00358-0097-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f882/1685356/8ad64ed3256f/ajhg00358-0097-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f882/1685356/8ad64ed3256f/ajhg00358-0097-a.jpg

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本文引用的文献

1
Breast cancer in one family group.一个家族群体中的乳腺癌
Am J Hum Genet. 1950 Mar;2(1):30-40.
2
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Science. 1971 Jul 9;173(3992):148-9. doi: 10.1126/science.173.3992.148.
3
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。
Am J Hum Genet. 1985 Jan;37(1):147-52.
4
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.
Ann Hum Genet. 1972 Apr;35(4):401-9.
4
The detection of hexokinase, glucosephosphate isomerase and phosphoglucomutase activities in polyacrylamide gels after electrophoresis: a novel method using immobilized glucose 6-phosphate dehydrogenase.聚丙烯酰胺凝胶电泳后己糖激酶、磷酸葡萄糖异构酶和磷酸葡萄糖变位酶活性的检测：一种使用固定化葡萄糖6-磷酸脱氢酶的新方法。
Anal Biochem. 1974 Oct;61(2):500-7. doi: 10.1016/0003-2697(74)90417-5.
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Ann Hum Genet. 1977 May;40(4):371-84. doi: 10.1111/j.1469-1809.1977.tb02025.x.
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