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Human Genetic DiversityFunctional Consequences for Health and Disease$
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Julian C. Knight

Print publication date: 2009

Print ISBN-13: 9780199227693

Published to Oxford Scholarship Online: September 2009

DOI: 10.1093/acprof:oso/9780199227693.001.0001

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Lessons from haemoglobin

Lessons from haemoglobin

(p.1) CHAPTER 1 Lessons from haemoglobin
Human Genetic Diversity

Julian C. Knight

Oxford University Press

Study of genetic variation at the globin genes has provided a series of fundamental insights the nature and extent of genetic diversity and its functional consequences. This chapter provides a primer in human molecular genetics through a systematic review of the elucidation of the genetic basis of haemoglobin S, responsible for sickle cell disease and trait. A review of genetic diversity at or near the globin genes responsible for other structural variants of haemoglobin and the haemoglobinopathies is described. This allows the major classes of genetic variation found in man to be introduced, ranging from fine scale nucleotide diversity to larger scale structural variation. The functional consequences of such diversity are discussed with a number of different examples given. The chapter concludes with a review of the remarkable successes achieved through completion of sequencing the human genome including insights into genetic variation.

Keywords:   haemoglobin, globin, sickle, haemoglobin S, thalassaemia, haemoglobinopathies, DNA, genetic variation, mutation, DNA sequencing

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