Clinical Chemistry
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Clinical Chemistry 40: 1567-1570, 1994;
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Clinical Chemistry, Vol 40, 1567-1570, Copyright © 1994 by American Association for Clinical Chemistry

Premature termination mutations in two patients with deficiency of lactate dehydrogenase H(B) subunit

K Sudo, M Maekawa, T Kanno, SS Li, S Akizuki and T Magara
Department of Laboratory Medicine, Jikei University School of Medicine, Daisan Hospital, Tokyo, Japan.

Two patients with low lactate dehydrogenase (LD) activity were discovered during healthcare examinations and were found to be homozygous for LD-H (heart) subunit deficiency by electrophoretic isoenzyme analysis of serum and erythrocyte hemolysate. The molecular nature of the genetic mutations was characterized by amplification by the polymerase chain reaction and DNA sequencing. In one case, a single- base substitution (T-->G transversion) at codon 147 of the LD-H(B) gene resulted in a nonsense mutation; in the other case, a deletion of 2 base pairs had occurred at codon 139, resulting in a frameshift translation and premature termination.


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.
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