Blood polymorphic proteins

Steklenev, E. P. and Marinchuk, G. E. 1981. Interspecies polymorphism of blood serum proteins in some representatives of a bovine subfamily (Bovinae) and their hybrids. TeitoL Genet. 75(2), 67-73 (Russian). 

Blood collected as evidence in criminal acts is usually dried and deposited on a variety of substrates. Sample size is usually on the order of a 2 or 3 mm diameter stain Traditional typing involves ABO blood grouping, and characterizing stable polymorphic proteins or enzymes present in blood by means of electrophoresis. See also Electrophoresis. 

Blood is a multi-component system with formed elements of red and white blood cells as well as platelets, and a liquid fraction (plasma), each containing a vast array of biochemical constituents. The forensic serologist has chosen three classes of the blood constituents for their genetic information and use in individualization endeavors. These constituent classes are 1) the blood grouping and typing antigens, 2) the polymorphic enzymes and 3) the polymorphic proteins. 

Rao M, Blackstone M, Busch H (1977) Biochemistry 16 2756-2762 Rapacz J, Master J (1968) Proc Xlth Eur Conf Blood Groups Protein Polymorphism in Animals, Warsaw, pp 101-108 Rapp J (1965) Endocrinology 76 486-490 Rapp J (1969) Am J Physiol 212 1135-1146 Rasch M, Lewis A (1968) J Histochem Cytochem 16 508-511 Ratner VA (1970) Ontogenesis (Russ) 1 166-175... 

Manttari M, Koskinen P, Ehnholm C, Huttunen JK, Manninen V. Apolipo-protein E polymorphism influences the serum cholesterol response to dietary intervene blood is diminished due to mutations within the apoB-100 receptor binding domain [51]. A number of point mutations of the putativd its relation to E polymorphism. Orv Hetil 1994 135 735-741. 

Collins A, Lonjou C, Morton NE (1999) Genetic epidemiology of single-nucleotide polymorphisms [see comments]. Proc Natl Acad Sci U S A 96 15173-15177 Cordon-Cardo C, O Brien JP, Casals D, et al (1989) Multidrug-resistance gene (P-glyco-protein) is expressed by endothelial cells at blood-brain barrier sites. Proc Natl Acad Sci US A86 695-698... 

Scott, J.C., Kennedy, M.W. and McManus, D.P. (2000) Molecular and immunological characterisation of a polymorphic cytosolic fatty acid binding protein from the human blood fluke Schistosoma japonicum. Biochimica et Biophysica Acta 1517, 53-62. 

Markers such as protein and blood group loci were initially used in the analysis of genetic traits however they were limited in utility due to low variation. Early in the 1980s these markers began to be replaced with DNA polymorphisms, initially RFLPs which are detected by the ability of a segment of DNA to be cut, or to not be cut, by a specific restriction enzyme. 

The second main class of blood constituents used as genetic markers are the polymorphic enzymes. The enzymes of interest to the forensic serologist are primarily located within the red blood cell and are commonly referred to as isoenzymes. These can briefly be described as those enzymatically active proteins which catalyze the same biochemical reactions and occur in the same species but differ in certain of their physicochemical properties. (This description does not exclude the tissue isoenzymes that occur within the same organism however, our consideration deals only with those of the red blood cell in particular.) The occurrence of multi-molecular forms of the same enzyme (isoenzymes) has been known for several decades however, it was not until the Metropolitan Police Laboratory of Scotland Yard adapted electrophoretic techniques to dried blood analysis that these systems were catapulted to the prominence they presently receive (.2). For many of the forensic serologists in the United States, the use of electrophoresis and isoenzyme determination is a recently-inherited capability shared by only a few laboratories. 

Hyperserotonemia has been a consistent finding in subjects with autism, which may be due to activity of serotonin-associated platelet proteins (Hranilovic et al., 2008, 2009). Interestingly, 99% of blood serotonin is contained in platelets (Anderson et al., 1987) and studies have shown that there is an approximate 50% increase in blood-levels of serotonin in subjects with autism vs. controls (McBride et al., 1998). Hypotheses for increased serotonin include increased synthesis of serotonin by tryptophan hydroxylase (TPHl), increased uptake of serotonin into platelets via serotonin transporters (5-HTT), diminished release of serotonin from platelets via serotonin 2A receptor, and decreased breakdown of serotonin by monoamine oxidase (MAOA) (Hranilovic et al., 2008). A study by Hranilovic et al. (2008) identified polymorphisms of tryptophan hydroxylase and MAOA with increased serum serotonin levels. Similarly, haplotype analysis has shown a significant association between polymorphisms of TPHl and increased serotonin in whole blood (Cross et al., 2008). 

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