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14 - DNA Markers of Human Variation

Published online by Cambridge University Press:  05 August 2012

By
Michael E. Steiper
Edited by
Michael P. Muehlenbein
Michael P. Muehlenbein
Affiliation:
Indiana University, Bloomington
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Summary

INTRODUCTION

Historically, questions relating to human genetics and variation have been addressed by the study of “classical” genetic markers (see Chapter 13 of this volume). Classical genetic markers are polymorphic proteins, which run the gamut from blood group antigens such as the ABO system to enzymes including G6PD. Each of these classical marker loci has characteristics that are useful for addressing questions about human genetic variation. These characteristics usually include an appreciable level of polymorphism (variation) and a methodological ability to consistently detect that polymorphism using techniques such as gel electrophoresis. Often, these variations make clear links between particular alleles and genetic diseases (e.g., the HbS allele of the β-globin gene with sickle cell anemia [Pauling et al., 1949], while at other times, these relationships are statistical (e.g., particular ABO blood type alleles and susceptibilities to diseases [see Chapter 13 of this volume])). The use of classical markers for understanding human genetic variation is reviewed in Chapter 13 of this volume.

In the current chapter, I review the application of more modern “DNA markers” to studies of human variation. A host of methodological advances coalesced in the 1980s that enabled scientists to investigate human variation directly at the level of the genetic material, hence the name “DNA markers.” Because there are several advantages to assaying human genetic diversity directly at the DNA level, a transition to use of these markers followed.

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Human Evolutionary Biology , pp. 238 - 264
Publisher: Cambridge University Press
Print publication year: 2010

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