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22种蛋白质基因变异在日本人中的频率。二、碳酸酐酶I和II、乳酸脱氢酶、苹果酸脱氢酶、核苷磷酸化酶、磷酸丙糖异构酶、血红蛋白A和血红蛋白A2。

The frequency in Japanese of genetic variants of 22 proteins II. Carbonic anhydrase I and II, lactate dehydrogenase, malate dehydrogenase, nucleoside phosphorylase, triose phosphate isomerase, haemoglobin A and haemoglobin A2.

作者信息

Ueda N, Satoh C, Tanis R J, Ferrell R E, Kishimoto S, Neel J V, Hamilton H B, Baba K

出版信息

Ann Hum Genet. 1977 Jul;41(1):43-52. doi: 10.1111/j.1469-1809.1977.tb01960.x.

DOI:10.1111/j.1469-1809.1977.tb01960.x
PMID:411414
Abstract

This paper presents the results of a survey of Japanese for electrophoretic variants of CA I, CA II, LDH, MDH, TPI, NP, HB A and A2, the number of determinations per system ranging from 738 to 4029. Four similar variants of CA I (designed CA IHIR1), one of LDH (designated LDHNGS1), one of MDH (designated MDHS 7HIR1), two of HB A (one a reascertainment of HB Hijiyama, the other not characterized), and one characterized by the absence of HB A2 (delta-thalassaemia) were observed and are described. The CA IHIR1, LDHNAG1 and MDHS 2HIR1 variants have not been previously observed in Japan. No electrophoretic variants were found in the TPI and NP systems.

摘要

本文介绍了一项针对日本人碳酸酐酶I（CA I）、碳酸酐酶II（CA II）、乳酸脱氢酶（LDH）、苹果酸脱氢酶（MDH）、磷酸丙糖异构酶（TPI）、磷酸酶（NP）、血红蛋白A（HB A）和血红蛋白A2（HB A2）电泳变异体的调查结果，每个系统的测定次数在738至4029次之间。观察到并描述了CA I的四种类似变异体（命名为CA IHIR1）、LDH的一种变异体（命名为LDHNGS1）、MDH的一种变异体（命名为MDHS 7HIR1）、HB A的两种变异体（一种是对HB Hijiyama的重新确定，另一种未明确特征）以及一种以缺乏HB A2（δ地中海贫血）为特征的变异体。CA IHIR1、LDHNAG1和MDHS 2HIR1变异体此前在日本未被观察到。在TPI和NP系统中未发现电泳变异体。

相似文献

1
The frequency in Japanese of genetic variants of 22 proteins II. Carbonic anhydrase I and II, lactate dehydrogenase, malate dehydrogenase, nucleoside phosphorylase, triose phosphate isomerase, haemoglobin A and haemoglobin A2.22种蛋白质基因变异在日本人中的频率。二、碳酸酐酶I和II、乳酸脱氢酶、苹果酸脱氢酶、核苷磷酸化酶、磷酸丙糖异构酶、血红蛋白A和血红蛋白A2。
Ann Hum Genet. 1977 Jul;41(1):43-52. doi: 10.1111/j.1469-1809.1977.tb01960.x.
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引用本文的文献

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The stepwise mutation model: an experimental evaluation utilizing hemoglobin variants.逐步突变模型：利用血红蛋白变体进行的实验评估。
Genetics. 1980 Jan;94(1):185-201. doi: 10.1093/genetics/94.1.185.
2
Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B(H) subunit.人类乳酸脱氢酶 -B（H）亚基电泳变异体中基因突变的分析。
Hum Genet. 1993 Jun;91(5):423-6. doi: 10.1007/BF00217765.
3
Search for mutations affecting protein structure in children of atomic bomb survivors: preliminary report.
探寻原子弹爆炸幸存者子女中影响蛋白质结构的突变：初步报告。
Proc Natl Acad Sci U S A. 1980 Jul;77(7):4221-5. doi: 10.1073/pnas.77.7.4221.
4
Amino acid substitution and chemical characterization of a Japanese variant of carbonic anhydrase I: CA I Hiroshima-1 (86 Asp replaced by Gly).碳酸酐酶I日本变异体的氨基酸取代与化学特性：CA I广岛-1（第86位天冬氨酸被甘氨酸取代）
Biochem Genet. 1981 Jun;19(5-6):535-49. doi: 10.1007/BF00484625.
5
A phylogeny for the principal alleles of the human phosphoglucomutase-1 locus.人类磷酸葡萄糖变位酶-1基因座主要等位基因的系统发育。
Proc Natl Acad Sci U S A. 1982 Nov;79(21):6636-40. doi: 10.1073/pnas.79.21.6636.
6
The rate with which spontaneous mutation alters the electrophoretic mobility of polypeptides.自发突变改变多肽电泳迁移率的速率。
Proc Natl Acad Sci U S A. 1986 Jan;83(2):389-93. doi: 10.1073/pnas.83.2.389.
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Search for mutations altering protein charge and/or function in children of atomic bomb survivors: final report.探寻原子弹爆炸幸存者子女中改变蛋白质电荷和/或功能的突变：最终报告。
Am J Hum Genet. 1988 May;42(5):663-76.
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Am J Hum Genet. 1988 Dec;43(6):870-93.
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