Blood genetic markers

E. R. Giblett, Genetic Markers in Human Blood, Chapter 11, p. 426 (a). Davis, Philadelphia, Pennsylvania, 1969. 

The second part of this project will investigate the applicability of the isoenzyme systems Glutathione Reductase and Peptidase A to dried blood analysis. The grantee proposes, also, to incorporate the Gm and Inv allotypes into routine use. Techniques for identifying these genetic markers are well-established for whole blood but must be adapted for dried blood analysis. Persistence studies will be undertaken to determine the viability of these different systems upon drying, to determine the effect of aging, to document the effect of various substrates, and to devise a practical system to type the isoenzymes and allotypes in dried blood. 

The goal of forensic serology is to individualize blood stains by identifying genetic markers whose population frequencies have been established. 

This goal may soon be within our reach. It appears, however, that this will not be a one step analytical procedure but a series of analyses utilizing several components of the blood from which a profile of genetic markers can be established. 

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. 

Electrophoresis has become a most vital technique for the separation and identification of the genetic markers in blood. 

Giblett, R., "Genetic Markers in Human Blood", Blackwell Scientific Publications, Oxford (1969). 

Visscher H, Ross CJ, Rassekh SRet al (2013) CPNDS Consortium. Validation of variants in SLC28A3 and UGT1A6 as genetic markers predictive of anthracycline-induced cardiotoxicity in children. Pediatr Blood Cancer 60 1375-1381... 

G13. Giblett, E. R., Pseudocholinesterase. In Genetic Markers in Human Blood, pp. 195-225. Blackwell, Oxford, 1969. 

In the past, genetic changes such as p53 and K-ras mutations were used as specific genetic markers for detection of free tumor cells and micrometastasis in the peripheral blood and lymph nodes (H2, H3). However, the positivity rate for such mutations in cancer is generally less than 50%, too low for routine diagnostic use. In addition, this method may detect even dead tumor cells containing the same sequence of interest, leading to false positive results (LI). 

A correlative study of A B O blood groups, sickle cell haemoglobin and glucose-6-phosphate dehydrogenase deficiency as genetic marker in Mahar community of rural population of Wardha District in Maharashtra. 

The molecular detection of the t(ll 14)(ql3 q32) translocation can be used as a sensitive method for the diagnosis of mantle cell lymphoma. It can also be used in combination with the immunoglobulinheavy chain (IgH) gene rearr angementassay-found in about 100% of mantle cell lymphoma - as an accurate genetic marker for the diagnosis of mantle cell lymphoma and as an efficient assay to detect minimal residual disease in bone marrow and peripheral blood. The described PC R-based methods use primers designed for the detection of these translocations with breakpoints located within the major translocation cluster. 

Three amylase phenotypes, AmlB, AmIC, and AmIBC, were detected by electrophoresis of blood serum from 329 Holstein cattle. These phenotypes appear to be controlled by two alleles AmlB and AmIC at the amylase I locus (Ami). Frequencies were 0.518 and 0.482 for alleles B and C. The numbers of phenotypes correspond closely to expectation of Hardy-Weinberg equilibrium. No evidence of linkage between the Ami locus and other genetic marker loci of blood and milk was detected. 

Blood, urine, saliva, and hair analyses to detect disease or genetic markers (e.g., for conditions such as sickle cell trait, breast cancer, Huntington s disease) ... 

Comment on "Whole blood levels of dodecanoic acid, a routinely detectable forensic marker for a genetic disease often misdiagnosed as sudden infant death syndrome (SIDS) MCAD deficiency". 

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