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This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Fujii, H. Articles by Miwa, S. Search for Related Content PubMed PubMed Citation Articles by Fujii, H. Articles by Miwa, S. Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria H Fujii, H Kanno, A Hirono, T Shiomura and S Miwa Department of Blood Transfusion Medicine, Tokyo Women's Medical College, Japan. We have determined a single amino acid substitution in a new phosphoglycerate kinase (PGK) variant, PGK Shizuoka, associated with chronic hemolysis and myoglobinuria. PGK Shizuoka had an extremely low enzyme activity with normal kinetic properties and normal electrophoretic mobility. Total blood cell RNA of the patient was reverse-transcribed and amplified by the polymerase chain reaction. A single nucleotide substitution from guanine to thymine at position 473 of PGK messenger RNA was found. This nucleotide change causes a single amino acid substitution from Gly to Val at the 157th position, which is located in the NH2-terminal domain of the enzyme. This mutation creates a new Bst XI cleavage site in exon 5, and we thus confirmed the mutation in the variant gene. The replacement of Gly by Val is considered to affect enzyme catalysis. Volume 79, Issue 6, pp. 1582-1585, 03/15/1992 Copyright © 1992 by The American Society of Hematology CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: H. Sugie, Y. Sugie, M. Ito, and T. Fukuda A Novel Missense Mutation (837T->C) in the Phosphoglycerate Kinase Gene of a Patient With a Myopathic Form of Phosphoglycerate Kinase Deficiency J Child Neurol, February 1, 1998; 13(2): 95 - 97. [PDF]

	Copyright © 1992 by American Society of Hematology         Online ISSN: 1528-0020