Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency.
Article Details
- CitationCopy to clipboard
Maekawa M, Sudo K, Kanno T, Li SS
Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency.
Biochem Biophys Res Commun. 1990 Apr 30;168(2):677-82.
- PubMed ID
- 2334430 [ View in PubMed]
- 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.