Summary
A total of 16,835 children, of whom 11,737 are unrelated, from Hiroshima and Nagasaki were examined for erythrocyte cytoplasmic glutamate-oxaloacetate transaminase (GOT1) by starch gel electrophoresis. A variant allele namedGOT1 * 2HR1 which seems to be identical withGOT1 *2 was encountered in polymorphic frequency. Five kinds of rare variants, 3NG1, 4NG1, 5NG1, 6HR1 and 7NG1 were encountered in a total of 109 children. Except for 7NG1 for which complete family study was unable, family studies confirmed the genetic nature of these rare variants, since for all instances in which both parents could be examined, one of the parents exhibited the same variant as that of their child. Thermostability profiles of these six variants were normal. The enzyme activities of five were decreased, while the value of one was normal compared to that of GOT1 1.
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Satoh, C., Takahashi, N., Kimura, Y. et al. Electrophoretic variants of blood proteins in Japanese VII. Cytoplasmic glutamate-oxaloacetate transaminase (GOT1). Jap J Human Genet 31, 1–14 (1986). https://doi.org/10.1007/BF01876796
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DOI: https://doi.org/10.1007/BF01876796