PMID: 9432020Jan 31, 1998Paper

Severe erythrocyte adenylate kinase deficiency due to homozygous A-->G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia

British Journal of Haematology
A QualtieriC Brancati

Abstract

A child of Italian origin with a congenital haemolytic anaemia had spectrophotometrically undetectable erythrocyte adenylate kinase (AK) activity. Her parents and brother had approximately 50% normal AK activity, and AK electrophoresis of red blood cell (RBC) crude extract on cellulose acetate strips showed the presence of the normal allele AK1-1. No AK band was detected in the AK electrophoresis of the proband, in whom the erythrocyte 2,3-diphosphoglycerate (2,3DPG) and glutathione (GSH) concentrations were normal whereas adenosine triphosphate (ATP) concentration, pyruvate kinase (PK) and glucose-6P-dehydrogenase (G6PD) activities were increased, reflecting the high reticulocyte count (6.9%). No other evident enzymatic defect was detected by standard procedures. Analysis of AK gene exons, based on polymerase chain reaction-single-strand conformational polymorphism (PCR-SSCP), clearly showed an abnormality in the fragment containing exon 6. The subsequent sequence analysis of this abnormal fragment revealed homozygous and heterozygous A-->G substitutions in the proband and in the parents and brother respectively at codon 164, corresponding to a tyrosine-->cysteine substitution in the AK protein.

Citations

Nov 26, 2008·The Journal of Biological Chemistry·Yan-Wen TanHaw Yang
May 27, 2009·International Journal of Molecular Sciences·Petras Dzeja, Andre Terzic
Feb 6, 2014·The International Journal of Biochemistry & Cell Biology·Christakis PanayiotouAnna Karlsson
May 18, 2004·Acta Obstetricia Et Gynecologica Scandinavica·Talvikki BoldtMarianne Eronen
Mar 17, 2016·Journal of Experimental & Clinical Cancer Research : CR·Koichi FujisawaIsao Sakaida
Aug 5, 2000·Baillière's Best Practice & Research. Clinical Haematology·G Jacobasch
Mar 29, 2019·Journal of Clinical Pathology·Rashmi DongerdiyePrabhakar S Kedar
Jul 31, 1999·The Journal of Biological Chemistry·X R ShengX M Pan
Jan 16, 2021·Therapeutic Advances in Psychopharmacology·Michael Ott, Ursula Werneke
Aug 19, 2004·Blood Cells, Molecules & Diseases·Elisa FermoAlberto Zanella

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