Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B(H) subunit

Hum Genet. 1993 Jun;91(5):423-6. doi: 10.1007/BF00217765.

Abstract

An electrophoretic variant of the lactate dehydrogenase (LDH)-B(H) subunit was discovered in a patient with diabetes mellitus. His LDH activity in serum was slightly lower than normal and the LDH isozyme pattern showed an abnormal migration indicating an LDH-B subunit variant of the fast type. The LDH containing the variant subunit revealed a decreased heat stability. DNA analysis of the variant allele detected a base substitution, an A to G transition, at codon 6 (AAA-->GAA). The mutation resulted in the replacement of a lysine by a glutamic acid (K6E). The change may cause the heat instability and affect the net charge of the variant subunit, resulting in an electrophoretic LDH-B subunit variant of the fast type.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alleles
  • Base Sequence
  • DNA Mutational Analysis
  • Diabetes Mellitus / enzymology
  • Electrophoresis, Polyacrylamide Gel
  • Genetic Variation
  • Hot Temperature
  • Humans
  • Isoenzymes
  • L-Lactate Dehydrogenase / genetics*
  • Male
  • Molecular Sequence Data
  • Nucleic Acid Heteroduplexes / analysis
  • Point Mutation
  • Polymerase Chain Reaction

Substances

  • Isoenzymes
  • Nucleic Acid Heteroduplexes
  • L-Lactate Dehydrogenase