Fast-type electrophoretic variant of lactate dehydrogenase M(A) and comparison with other missense mutations in lactate dehydrogenase M(A) and H(B) genes.
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.
Maekawa
M
M
Department of Laboratory Medicine, Hamamatsu University School of Medicine, Japan.
Sudo
K
K
Kobayashi
A
A
Sugiyama
E
E
Li
S S
SS
Kanno
T
T
D001483:Base Sequence; D002637:Chest Pain; D003062:Codon; D004247:DNA / Q000032:analysis / Q000737:chemistry; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D004586:Electrophoresis; D005260:Female; D005971:Glutamates; D018698:Glutamic Acid; D006801:Humans; D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase / Q000097:blood / Q000235:genetics*; D008239:Lysine; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction
D003062:Codon; D005971:Glutamates; D007527:Isoenzymes; D018698:Glutamic Acid; D004247:DNA; D007770:L-Lactate Dehydrogenase; C024413:endodeoxyribonuclease MboII; D015252:Deoxyribonucleases, Type II Site-Specific; D008239:Lysine