title: Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency.
abstract: Human lactate dehydrogenase-A mutant gene was isolated from the genomic DNA library of a patient deficient in LDH-A (Muscle) subunit. The nucleotide sequences of seven protein-coding exons were determined and a deletion of 20 base-pairs in exon 6 was found. This mutation results in a frame-shift translation and premature termination. The predicted incomplete LDH-A (M) subunit containing only 259 instead of 331 amino acids appears to be degraded rapidly, since no protein was detected immunologically (Maekawa et al., Am J Hum Genet 39:232-238, 1986). In addition, three synonymous (silent) substitutions, A to C, T to C, and G to A, were observed at codons 115, 160 and 172, respectively, in this LDH-A mutant gene.
authors.affiliation: Laboratory of Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709.
authors.forename: M
authors.initials: M
authors.lastname: Maekawa
authors.forename: K
authors.initials: K
authors.lastname: Sudo
authors.forename: T
authors.initials: T
authors.lastname: Kanno
authors.forename: S S
authors.initials: SS
authors.lastname: Li
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000302:isolation & purification; D005091:Exons; D005260:Female; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D015183:Restriction Mapping
chemical_list: D004247:DNA; D007770:L-Lactate Dehydrogenase