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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 Maeda, M. Articles by Yoshida, A. Search for Related Content PubMed PubMed Citation Articles by Maeda, M. Articles by Yoshida, A. Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu----Pro substitution caused by T/A- ---C/G transition in exon 3 M Maeda and A Yoshida Department of Biochemical Genetics, Beckman Research Institute of the City of Hope, Duarte, CA 91010. We have identified the mutation in a phosphoglycerate kinase variant (PGK-Matsue) associated with severe enzyme deficiency, congenital nonspherocytic hemolytic anemia, and mental disorders. The mRNA coding for PGK was reverse transcribed and amplified by the polymerase chain reaction. Nucleotide sequencing of the variant cDNA showed a point mutation, a T/A----C/G transition in exon 3 of the variant gene. No other mutation was found in all coding regions of PGK-Matsue. The nucleotide change created an additional NciI cleavage site in the variant gene; thus, the NciI fragment types detected by Southern blot hybridization differ in the variant DNA and normal DNA. The mutation should cause Leu----Pro substitution at the 88th position from the NH2- terminal Ser of PGK. Because the Leu----Pro substitution is expected to induce serious perturbation and instability in the protein structure, the severe enzyme deficiency is mainly caused by more rapid in vivo denaturation and degradation of the variant enzyme. Volume 77, Issue 6, pp. 1348-1352, 03/15/1991 Copyright © 1991 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 © 1991 by American Society of Hematology         Online ISSN: 1528-0020