Clinical Chemistry
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Clinical Chemistry 40: 665-668, 1994;
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Clinical Chemistry, Vol 40, 665-668, Copyright © 1994 by American Association for Clinical Chemistry

Fast-type electrophoretic variant of lactate dehydrogenase M(A) and comparison with other missense mutations in lactate dehydrogenase M(A) and H(B) genes

M Maekawa, K Sudo, A Kobayashi, E Sugiyama, SS Li and T Kanno
Department of Laboratory Medicine, Hamamatsu University School of Medicine, Japan.

An electrophoretic variant of lactate dehydrogenase (LD) M(A) subunit was discovered in a female patient with chest pain. Her LD activity in serum was within the normal reference interval, and analysis of her LD isoenzyme pattern showed an abnormal migration indicating a fast-type LD-M(A) subunit variant. DNA analysis of the mutant LD-M gene detected a single base substitution, an A to G transition at codon 220 (AAA-- >GAA). This mutation resulted in the replacement of a lysine by a glutamic acid (mutation K220E) and produced a subunit variant (electrophoretic fast type). This missense mutation was also observed in the patient's son, and genotypes of mother and son were consistent with their biochemical phenotypes, as evaluated by LD isoenzyme analysis.


The following articles in journals at HighWire Press have cited this article:


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 Clin. Chem.Home page
J. Ishikawa, T. Taniguchi, H. Higashi, K. Miura, K. Suzuki, A. Takeshita, and M. Maekawa
High Lactate Dehydrogenase Isoenzyme 1 in a Patient with Malignant Germ Cell Tumor Is Attributable to Aberrant Methylation of the LDHA Gene
Clin. Chem., October 1, 2004; 50(10): 1826 - 1828.
[Full Text] [PDF]

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M. Maekawa, M. Inomata, M. S. Sasaki, A. Kaneko, M. Ushiama, K. Sugano, J. Takayama, and T. Kanno
Electrophoretic Variant of a Lactate Dehydrogenase Isoenzyme and Selective Promoter Methylation of the LDHA Gene in a Human Retinoblastoma Cell Line
Clin. Chem., November 1, 2002; 48(11): 1938 - 1945.
[Abstract] [Full Text] [PDF]


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Copyright © 1994 by the American Association for Clinical Chemistry.