Erythrocytes polymorphism

McLeod HL, Reeling MV, Liu Q et al. Polymorphic thiopurine methyltransferase in erythrocytes is indicative of activity in leukemic blasts from children with acute lymphoblastic leukemia. Blood 1995 85 1897-1902. 

In humans, erythrocytes contain an esterase that displays genetic polymorphism [86], This esterase has been called esterase D (ES-D), a name without connection to the above-presented A-, B-, and C-classification. Three carboxylesterases named HU1, HU2, and HU3 have been found in human liver microsomes. Other tissues where esterases have been found include brain, plasma, stomach, small intestine, and colon [79]. 

Fig. 2.4. Schematic model of the molecular polymorphism of acetylcholinesterase and cholinesterase [110][112a]. Open circles represent the globular (G) catalytic subunits. Disulfide bonds are indicated by S-S. The homomeric class exists as monomers (Gl), dimers (G2), and tetramers (G4) and can be subdivided into hydrophilic (water-soluble) and amphiphilic (membrane-bound) forms. The G2 amphiphilic forms of erythrocytes have a glycophospholipid anchor. The heteromeric class exists as amphiphilic G4 and as asymmetric forms (A) containing one to three tetramers. Thus, heteromeric G4 forms found in brain are anchored into a phospholipid membrane through a 20 kDa anchor. The asymmetric A12 forms have three hydrophilic G4 heads linked to a collagen tail via disulfide bonds.

E. Hallier, K. R. Schroder, K. Asmuth, A. Dommermuth, B. Aust, H. W. Goergens, Metabolism of Dichloromethane (Methylene Chloride) to Formaldehyde in Human Erythrocytes Influence of Polymorphism of Glutathione Transferase Theta (GST Tl-1) , Arch. Toxicol. 1994, 68, 423 - 427. 

McLeod HL, Krynetski EY, Wilimas JA et al. Higher activity of polymorphic thiopurine 5-methyltransferase in erythrocytes from neonates compared to adults. Pharmacogenetics 1995 5 281-286. 

Hallier, E., Schroder, K.R., Asmuth, K., Dommermuth, A., Aust, B. Goergens, H.W. (1994) Metabolism of dichloromethane (methylene chloride) to fonnaldehyde in human erythrocytes influence of polymorphism of glutathione transferase theta (GSTl-1). Arch. Toxicol., 68, 423— 427... 

Human erythrocyte acid phosphatase (EAP) polymorphism was first described by Hopkinson, Spencer and Harris (1). EAP can be classified by electrophoresis into six different phenotypes,... 

Fever, cardiac murmur and vegetations are not invariably present in patients with infective endocarditis, and blood cultures are indicated in unexplained stroke particularly if there is raised erythrocyte sedimentation rate, mild anemia, neutrophil leukocytosis or a history of intravenous drug abuse. The cerebrospinal fluid (CSF) can be normal, but > 100 X 10 cells/l polymorphs is said to suggest endocarditis, although similar counts have been described in intracerebral hemorrhage and in hemorrhagic transformation of an infarct, but not in ischemic stroke (Powers 1986). 

The presence of acid phosphatase in the human erythrocyte was recognized in 1934 (D4) and properties of this enzyme were studied for almost thirty years (A4, K6, Tl, T2, T4, T5) before its role in human genetics was revealed (H13). This role will be described in detail later. The properties of crude preparations of erythrocytic acid phosphatase have been previously noted in this review. At this point, we shall describe methods of purification, and the nature of the isoenzymes, particularly as they are related to the phenomenon of polymorphism. 

Polymorphism of Acid Phosphatase in Human Erythrocytes 5.1. Introduction... 

It is of interest that within several years after the observations of Hopkinson et al. (H13), other human erythrocytic enzymes such as phosphoglucomutase, glucose 6-phosphate dehydrogenase, phosphogluco-nate dehydrogenase, adenylate kinase, peptidase, and adenosine deaminase were explored intensively with respect to their polymorphism (H2, HU). However, we shall concern ourselves here only with acid phosphatase. 

Hll. Hopkinson, D. A., Genetically determined polymorphisms of erythrocyte enzymes in man. Advan. Clin. Chem. 10, 21-80 (1968). 

Genetically Determined Polymorphisms of Erythrocyte Enzymes in Man D. A. Hopkinson... 

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