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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1993-06

AUTHORS

Masato Maekawa, Kayoko Sudo, Masato Kitajima, Yukio Matsuura, Steven S. -L. Li, Takashi Kanno

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. More... »

PAGES

423-426

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00217765

DOI

http://dx.doi.org/10.1007/bf00217765

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1053309589

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8314553


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