Blood Group Genetics


Blood groups are antigenic determinants on blood cells that represent inherited variation of the proteins, glycoproteins and glycolipids that are exposed at the cell surface. Most of the genes encoding blood group antigens, either directly or indirectly, have been cloned and the molecular bases for many of the polymorphisms are known.

Keywords: red blood cells; ABO; Rh; Kell; integral membrane proteins

Figure 1.

Diagrammatic representation of the H‐active trisaccharide on group O cells (centre) and the group A‐ and B‐active oligosaccharides (above and below). Also shown is the biosynthesis of the A and B structures from H, by A‐transferase and B‐transferase, the products of the A and B alleles. R, remainder of molecule; GlcNAc, N‐acetylglucosamine; Gal, galactose; Fuc, fucose; GalNAc, N‐acetylgalactosamine; UDP, uridine diphosphate.

Figure 2.

Proposed conformation of RhD and RhCcEe proteins, and the glycosylated Rh‐associated glycoprotein (RhAG) in the red cell membrane, each with 12 membrane‐spanning domains and six external loops (above). The 10 exons of the RHD, RHCE and RHAG genes are shown below.


Further Reading

Barclay AN, Brown MH, Law SKA et al. (1997) The Leucocyte Antigen Facts Book, 2nd edn. London: Academic Press.

Daniels G (1999) Functional aspects of red cell antigens. Blood Reviews 13: 14–35.

Daniels G (2002) Human Blood Groups, 2nd edn. Oxford: Blackwell Science.

Daniels G and Hadley A (2003) Blood groups on red cells, platelets and neutrophils. In: Wickramasinghe AN and McCullough J (eds) Blood and Bone Marrow Pathology, pp. 615–635. Edinburgh: Elsevier Science.

Issitt PD and Anstee DJ (1998) Applied Blood Group Serology, 4th edn. Durham, NC: Montgomery Scientific Publications.

Mollison PL, Engelfriet CP and Contreras M (1997) Blood Transfusion in Clinical Medicine, 10th edn. Oxford: Blackwell Science.

Reid ME and Lomas‐Francis C (2003) The Blood Group Antigen Facts Book, 2nd edn. London: Academic Press.

Protein Reviews on the Web. Index of CD molecules.

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Daniels, Geoff(Sep 2005) Blood Group Genetics. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0003854]