Jump to ContentJump to Main Navigation
Human Genetic DiversityFunctional Consequences for Health and Disease$
Users without a subscription are not able to see the full content.

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

Show Summary Details
Page of

PRINTED FROM OXFORD SCHOLARSHIP ONLINE (www.oxfordscholarship.com). (c) Copyright Oxford University Press, 2019. All Rights Reserved. An individual user may print out a PDF of a single chapter of a monograph in OSO for personal use. date: 16 October 2019

Lessons from haemoglobin

Lessons from haemoglobin

Chapter:
(p.1) CHAPTER 1 Lessons from haemoglobin
Source:
Human Genetic Diversity
Author(s):

Julian C. Knight

Publisher:
Oxford University Press
DOI:10.1093/acprof:oso/9780199227693.003.0001

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

Oxford Scholarship Online requires a subscription or purchase to access the full text of books within the service. Public users can however freely search the site and view the abstracts and keywords for each book and chapter.

Please, subscribe or login to access full text content.

If you think you should have access to this title, please contact your librarian.

To troubleshoot, please check our FAQs , and if you can't find the answer there, please contact us .