Molecular analysis of genetic mutation in electrophoretic variant of human lactate dehydrogenase-A(M) subunit.
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Sudo K, Maekawa M, Shioya M, Ikeda K, Takahashi N, Isogai Y, Li SS, Kanno T, Machida K, Toriumi J
Molecular analysis of genetic mutation in electrophoretic variant of human lactate dehydrogenase-A(M) subunit.
Biochem Int. 1992 Sep;27(6):1051-7.
- PubMed ID
- 1445373 [ View in PubMed]
- Abstract
An electrophoretic variant of lactate dehydrogenase-A (M) subunit was discovered in a patient with multiple myeloma. DNA analysis of the variant allele revealed a nucleotide substitution (transition) of C to T at codon 314 (CGT-TGT), and this mutation resulted in the replacement of an arginine by a cysteine (R314C). This amino acid replacement affects the net charge of the subunit and makes the LDH-A variant have a faster electrophoretic mobility. The responsible missense mutation created a new restriction site, AGGCCT, which can be simply detected by endonuclease AatI digestion. In addition, four synonymous substitutions with no amino-acid replacements were found at codons 51, 119, 163 and 175 in the LDH-A gene from the patient.