title: Molecular analysis of genetic mutation in electrophoretic variant of human lactate dehydrogenase-A(M) subunit.
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.
authors.affiliation: Department of Laboratory Medicine, Jikei University School of Medicine, Daisan Hospital, Komae, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Sudo
authors.forename: M
authors.initials: M
authors.lastname: Maekawa
authors.forename: M
authors.initials: M
authors.lastname: Shioya
authors.forename: K
authors.initials: K
authors.lastname: Ikeda
authors.forename: N
authors.initials: N
authors.lastname: Takahashi
authors.forename: Y
authors.initials: Y
authors.lastname: Isogai
authors.forename: S S
authors.initials: SS
authors.lastname: Li
authors.forename: T
authors.initials: T
authors.lastname: Kanno
authors.forename: K
authors.initials: K
authors.lastname: Machida
authors.forename: J
authors.initials: J
authors.lastname: Toriumi
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D000818:Animals; D004586:Electrophoresis; D005260:Female; D006801:Humans; D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase / Q000097:blood / Q000235:genetics*; D008969:Molecular Sequence Data; D009101:Multiple Myeloma / Q000201:enzymology; D009154:Mutation; D016133:Polymerase Chain Reaction; D012689:Sequence Homology, Nucleic Acid
chemical_list: D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase