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

✍ Scribed by Masato Maekawa; Kayoko Sudo; Masato Kitajima; Yukio Matsuura; Steven S. -L. Li; Takashi Kanno

Publisher: Springer
Year: 1993
Tongue: English
Weight: 637 KB
Volume: 91
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00217765

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✦ Synopsis

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.

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