Globin Genes: Polymorphic Variants and Mutations

Abstract

The globin genes encode the globin chains that make up hemoglobin (Hb). More than 1000 polymorphic variants of the globin genes have been characterized, consisting of single nucleotide substitutions through to complex gene rearrangements. Most globin gene mutations either alter the amino acid sequence of a globin chain, creating an abnormal hemoglobin such as Hb S, or cause a reduction in the synthesis of one or more normal globin chains (the thalassemia disorders). A few mutations cause both types of defect, while others are simple natural polymorphisms that are used as DNA markers.

Keywords: abnormal hemoglobins; thalassemia disorders; globin gene polymorphisms; globin gene mutations; hemoglobin variants; thalassemia mutations

References

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Further Reading

Bernini LF and Hartevald CL (1998) α‐Thalassaemia. Rogers GP (ed.) Sickle Cell Disease and Thalassaemia, pp. 53–90. London, UK: Baillière Tindall

Forget BG (2001) Molecular genetics of the human globin genes. In: Steinberg MH, Forget BG, Higgs DR and Nagel RL (eds.) Disorders of Haemoglobin, pp. 117–130. Cambridge, UK: Cambridge University Press

Huisman TJH (1993) The structure and function of normal and abnormal haemoglobins. In: Higgs DR and Weatherall DJ (eds.) The Haemoglobinopathies, pp. 1–30. London, UK: Baillière Tindall

Old J (2002) Hemoglobinopathies and thalassemias. In: Rimoin DL, Conner JM, Pyeritz RE and Korf BR (eds.) Emery and Rimoin's Principles and Practice of Medical Genetics, 4th ed., pp. 1861–1898. London, UK: Churchill Livingstone

Steinberg MH and Nagel RL (2001) Native and recombinat mutant hemoglobins of biological interest. In: Steinberg MH, Forget BG, Higgs DR and Nagel RL (eds.) Disorders of Haemoglobin, pp. 1195–2014. Cambridge, UK: Cambridge University Press

Thein SL (1998) β‐Thalassaemia. Rogers GP (ed.) Sickle Cell Disease and Thalassaemia, pp. 53–90. London, UK: Baillière Tindall

Thein SL (2001) Structural variants with a thalassaemia phenotype. In: Steinberg MH, Forget BG, Higgs DR and Nagel RL (eds.) Disorders of Haemoglobin, pp. 342–355. Cambridge, UK: Cambridge University Press

Weatherall DJ, Clegg JB, Higgs DR and Wood WG (1995) The hemoglobinopathies. In: Scriver CR, Beaudet AL, Sly WS and Valle D (eds.) The Metabolic Basis of Disease, 7th ed., pp. 3417–3484. New York, NY: McGraw‐Hill

Web Links

The Globin Gene Server. A regularly updated database of globin gene mutations http://globin.cse.psu.edu

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How to Cite close
Old, John Michael(Jan 2006) Globin Genes: Polymorphic Variants and Mutations. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0006078]