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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.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Maekawa M,Sudo K,Kanno T,Li SS

doi

10.1016/0006-291x(90)92374-9

subject

Has Abstract

pub_date

1990-04-30 00:00:00

pages

677-82

issue

2

eissn

0006-291X

issn

1090-2104

pii

0006-291X(90)92374-9

journal_volume

168

pub_type

杂志文章

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