DNA analysis of slow type of electrophoretic lactate dehydrogenase B(H) variant

Abstract

A slow type of an electrophoretic variant of lactate dehydrogenase (LDH)-B(H) subunit was analyzed for genetic mutation. DNA analysis of the variant alleles detected a base substitution, an A to T transition at codon 320 (GAT→GTT). The mutation resulted in the replacement of an aspartic acid by valine (D 320V), and in a change of electrophoretic charge. The change may cause the net charge of the variant subunit resulting in an electrophoretic B subunit variant of the slow type. The missense mutation created a new restriction site GTNAC for endonuclease Mae III in exon 7 of the LDH-B mutant gene. Thus, we can easily detect and confirm the missense mutation.