Human Blood Group Genes 2004: Chromosomal Locations and Cloning Strategies
Section snippets
Chromosomal Locations of Human Blood Group Genes
The locations of the genes controlling the expression of the blood group antigens that make up the 29 established blood group systems are depicted in Figure 1. The individual chromosomal banding patterns are based on the nomenclature established by the International Society for Cytogenetic Nomenclature Committee.4 Briefly, the dark Giemsa-stained bands are AT-rich regions of condensed DNA, known as heterochromatin, and the light quinacrine-stained bands are GC-rich regions of genetically active
The Cloning of Blood Group System Genes
Since our last review on this subject,2 5 additional genes controlling human blood group expression have been cloned. A brief description of the methodology used for each follows.
P1 (ISBT #003)
The P blood group system contains only the P1 antigen. Originally, the P1, P, Pk, and LKE antigens were grouped as the P system, but studies revealed that the biochemical pathways for their respective synthesis are distinct; in 1994, the P, Pk, and LKE antigens were formed into a separate group, the Globoside collection.21 As described above, GLOB, containing the P antigen, was recently broken out from the Globoside collection to form its own blood group system, based on the cloning of and
Conclusions
The last several years have witnessed a near-complete genetic mapping of the blood group systems with respect to both chromosomal location of the responsible genes and to their cloning, sequencing, and exon-intron organization. Concurrently, a corresponding growth in knowledge of the glycoproteins and glycolipids carrying the blood group polymorphisms, with respect to both their structures and functions, has occurred (Table 2). For example, we now know that the previously designated Do
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Cited by (38)
Molecular Detection of Glycophorins A and B Variant Phenotypes and their Clinical Relevance
2019, Transfusion Medicine ReviewsCitation Excerpt :GYPA is around 60 kb with seven exons, while GYPB is around 58 kb with five exons and a pseudoexon 3 (ψ3). Both glycophorin genes are located on the long (q) arm at band 31.21 of chromosome 4 (4q31.21) and their expression is only in the RBCs membrane [14-17]. Crossover or conversion between the homologous regions of GYPA and GYPB gives rise to several different hybrid glycophorin genes encoding a number of different glycophorin variant phenotypes in the MNS blood group system (Fig 1), and recombination hotspots have been identified in the homologous introns flanking exon/ψ3 (Fig 2) [7,18-21].
Massively parallel and multiplex blood group genotyping using next-generation-sequencing
2018, Clinical BiochemistryCitation Excerpt :Today, 36 blood group systems are listed by the International Society of Blood Transfusion (ISBT), bringing the current total of blood group antigens to 346 [1]. Most of the blood group genes have been cloned and sequenced [2, 3], leading to the knowledge of their molecular basis, the majority resulting from single nucleotide polymorphism (SNP). The importance of identifying and matching blood types is critical in avoiding any incompatibility which can occur following a blood transfusion.
Development and Validation of a Fully Automated Platform for Extended Blood Group Genotyping
2016, Journal of Molecular DiagnosticsDNA biosensor/biochip for multiplex blood group genotyping
2013, MethodsCitation Excerpt :Today, 33 blood group systems representing over 300 antigens are listed by the ISBT. Most of them have been cloned and sequenced [1,2] which means that the molecular bases of these blood group systems are known and mostly result from single nucleotide polymorphism (SNP). Red Blood Cells (RBC) carrying a particular antigen can elicit an immune response if they are introduced in the blood circulation of someone who lacks this antigen.
DNA-based methods in the immunohematology reference laboratory
2011, Transfusion and Apheresis ScienceCitation Excerpt :The purpose of this overview is to discuss how molecular approaches can be used in the immunohematology reference laboratory. The genes encoding the 30 blood group systems have been cloned and sequenced, and the molecular bases of most blood group antigens and phenotypes have been determined [7–9]. Analysis of DNA involves polymerase chain reaction (PCR) amplification of the target sequence, typically using primers targeting the intron regions that flank one or more exons, followed by analyses such as restriction fragment length polymorphism (RFLP) or direct dideoxy-nucleotide sequencing.
Human Blood Group Genes 2010: Chromosomal Locations and Cloning Strategies Revisited
2011, Transfusion Medicine Reviews