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Human Biological Variation

Second Edition

James H. Mielke, Lyle W. Konigsberg, and John H. Relethford

Publication Date - 17 March 2010

ISBN: 9780195387407

464 pages
6-1/2 x 9-1/4 inches

The most up-to-date and authoritative book on human variation


Authoritative yet accessible, Human Biological Variation, Second Edition, opens with an engaging introduction to basic genetics and the evolutionary forces that set the stage for understanding human diversity. It goes on to offer a clear and detailed discussion of molecular genetics, including its uses and its relationship to anthropological and evolutionary models. The text features up-to-date discussions of classic genetic markers (blood groups, enzymes, and proteins) along with extensive background on DNA analysis and coverage of satellite DNA, single nucleotide polymorphisms (SNPs), and Alu inserts. It covers such current issues as the meaning and significance of "race," quantitative genetics and the "nature versus nurture" debates, biocultural interactions, population structure, and cultural and historical influences on patterns of human variation. Discussing the use of probability and statistics in studying human variation and adaptation in a lucid and approachable way, the book provides clearly explained math that is kept to the level of basic algebra.

Integrating real-world examples on interesting topics--including genetic testing, lactose intolerance, dyslexia, IQ, and homosexuality--the second edition of Human Biological Variation provides the most thorough and contemporary view of our biological diversity.

New to this Edition

  • Explorations in Diversity boxes highlight in-the-news examples, including the use of parasites to study human biological variation, determining skin and hair color of Neandertals, and how biology influences mate choice
  • Includes a new chapter on milk, taste, and cerumen (Chapter 8)
  • Offers more extensive examples of adaptation and physiological variation
  • Discusses the latest research on traditional markers (blood groups, enzymes, and proteins) and their uses in anthropological studies of diversity
  • Provides updated references, web links, and suggestions for further reading


  • Presents in a clear and approachable way the use of probability and statistics in studying human variation and adaptation
  • Includes a clear and comprehensive section on quantitative genetic variation
  • Includes clearly explained math, kept to the level of basic algebra

About the Author(s)

James H. Mielke is Professor of Anthropology at the University of Kansas.
Lyle W. Konigsberg is Professor of Anthropology at the University of Illinois at Urbana-Champaign.
John H. Relethford is Distinguished Teaching Professor of Anthropology at the State University of New York College at Oneonta.

Previous Publication Date(s)

November 2005


"The authors provide an illuminating overview on the history of thinking about race and the classification schemes that have been applied in this arena...Importantly, the authors emphasize humans as social creatures, nothing that our capacity for culture has uniquely influenced our evolutionary trajectory. In most areas, the book is successful in reaching its goals, whereas others could leave readers unsatisfied. Nevertheless, this volume would be appropriate textbook for an upper-division undergraduate or graduate-level course." -- Brian Kemp, The Quarterly Review of Biology

Table of Contents

    * = new to this edition

    Table of Contents

    Section I: Background
    Chapter 1: Comprehending Human Biological Diversity: A Brief History
    The Beginnings of Western Classification Systems
    Classifying the Diversity
    A Shift in Racial Classifications
    More Measuring of Skulls and the Ideal Type
    Typological Approach
    Mendelian Genetics
    Questioning the Usefulness of the Race Concept
    A Genetic Definition of Race
    Clines and Populations
    So, Where Are We Today?
    Chapter Summary
    Supplemental Resources

    Chapter 2: The Genetic Basis of Human Variation
    A Minimalist View of the Requirements for Inheritance via DNA
    Mitosis produces identical nuclear DNA in daughter cells
    Meiosis produces haploid daughter cells
    Human Chromosomes
    The Processes of Cell Division
    Deoxyribonucleic Acid (DNA)
    The molecular composition of DNA
    From Genotype to Phenotype
    Insertions and deletions
    Translocations and non-disjunction
    Mutation frequencies
    Basic Transmission Genetics - The Mendelian Laws
    Mendel's First Law - segregation of alleles
    Mendel's Second Law - independent assortment of alleles
    Beyond Mendel
    Sex-linked inheritance
    Mitochondrial DNA
    What Is a Gene?
    *Explorations in Diversity: Telomere Length and Aging
    Chapter Summary
    Supplemental Resources

    Chapter 3: Population Genetics and Human Variation
    Probability Theory
    Probability rules
    Hardy-Weinberg Equilibrium
    Allele frequencies
    Expected genotype frequencies
    Why is Hardy-Weinberg equilibrium important?
    How can we tell if a population is in Hardy-Weinberg equilibrium?
    Departures from Hardy-Weinberg Equilibrium
    Multiple locus Hardy-Weinberg equilibrium
    Assortative mating
    Evolutionary Forces
    Combining forces
    Chapter Summary
    Supplemental Resources

    Section II: Variation in Genes, Simple Genetic Traits, and DNA Markers

    Chapter 4: Blood Group Polymorphisms
    *Antigens, Antibodies, and the Immune System
    *The immune system
    *Innate immunity
    Acquired immunity (adaptive immunity)
    Genetic Polymorphisms in the Blood
    ABO, Hh (FUT1), Secretor (FUT2), and Lewis (FUT3) Systems
    The ABO histo-blood group system
    Hh (FUT1) and Bombay
    The secretor system (FUT2)
    The Lewis system (FUT3)
    *Explorations in Diversity: Histo-Blood Groups and Diet
    Geographical Distribution and Natural Selection of the ABO Histo-Blood Group System
    Syphilis (treponemal diseases)
    *Pathogen receptors
    Blood group associations
    Other possible selective factors and the ABO system
    The Rh System
    The Rh system and selection
    *Explorations in Diversity: Erythrocytes as Pathogen Decoys
    The MNSs Blood Group System
    The Duffy Blood Group System
    Other Blood Groups
    Chapter Summary
    Supplemental Resources

    Chapter 5: Serum Protein and Red Cell Enzymes
    Detection of Genetic Polymorphisms
    Some Plasma Proteins
    Haptoglobin (alpha-2-globulins)
    Transferrin (Tf)
    Group-specific component or vitamin D-binding protein
    Immunoglobulins (Gm-Am and Km)
    Apolipoproteins, Beta Lipoproteins, and Beta-2-
    Other plasma proteins
    *Explorations in Diversity: Novel Ways to Explore Human Variation and Evolution
    Red Cell Enzymes
    Glucose-6-phosphate dehydrogenase
    Other enzyme systems of anthropological interest
    Exploring Population Structure with Classical Markers
    Example 1: The Irish travelers or tinkers
    Example 2: The origins of Indo-Europeans
    Chapter Summary
    Supplemental Resources

    Chapter 6: Human Leukocyte Antigen and Polymorphism
    The Major Histocompatibility Complex
    Location and Organization of the MHC
    Linkage Disequilibrium
    HLA and Disease Associations
    HLA and Population Diversity
    *Explorations in Diversity: HLA and Mate Choice?
    Chapter Summary
    Supplemental Resources

    Chapter 7: Human Hemoglobin Variants
    Beginnings of Hemoglobin Research
    The Hemoglobin Molecule and Hemoglobin Genes
    Hemoglobin Variants
    The Geographic Distribution of the Sickle Cell Allele
    How resistance to faliparum malaria works
    The Possibility of Differential Fertility
    Origin of the Sickle Cell Allele
    Other Hemoglobinopathies
    HbE (Hemoglobin E)
    HbC (Hemoglobin C)
    Other Hemoglobinopathies of anthropological interest
    Beta- thalassemias
    Thalassemia Haplotypes
    The Thalassemias and Natural Selection
    Chapter Summary
    Supplemental Resources

    *Chapter 8: Milk, Taste, and Cerumen
    Lactase Restriction and Persistence
    Taste: Phenylthiocarbamide (6-N-PROPYLTHIOURACIL)
    Variation in Ear Wax, or Cerumen
    Chapter Summary
    Supplemental Resources

    Chapter 9: DNA Markers
    Molecular Genetic Techniques and DNA Variation
    Polymerase chain reaction (PCR)
    Restriction fragment length polymorphisms (RFLP)
    Insertions and deletions ("indels")
    Interspersed nuclear elements: SINEs and LINEs
    DNA sequencing
    Tandem repeats
    *Explorations in Diversity: Two DNA Vignettes from across the Globe
    *Copy number variants
    *American Indians
    The Cohen Modal Haplotype and the Diaspora
    How Many Races are Documented in Our DNA?
    DNA Markers and Individual Variation
    Thomas Jefferson and the descendants of Sally Hemmings
    Who is buried in Jesse James's grave?
    Chapter Summary
    Supplemental Resources

    Section III: Variation in Complex Traits and Other Variations

    Chapter 10: Quantitative Variation
    The Mendelian Basis for Quantitative Trait Variation
    Compontents of variation for a quantitative trait
    Estimation of Narrow Sense Heritability (h2)
    Narrow Sense Heritability of the Cephalic Index
    Multiple Quantitative Traits
    Evolution and Quantitative Traits
    Genetic drift and migration
    *Explorations in Diversity: QTLs, LODs, and AIMs
    Chapter Summary
    Supplemental Resources

    Chapter 11: Anthropometric Variation
    Anthropometric Measures
    Body measures
    Skin folds
    Head measures
    Variation Within Populations
    *Explorations in Diversity: Can We Tell Race from Cranial Measurements?
    Human growth
    Sexual dimorphism
    Environmental Variations
    Correlations with climate
    High-altitude adaptation
    *Explorations in Diversity: The Practical Value of Anthropometry
    Chapter Summary
    Supplemental Resources

    Chapter 12: Pigmentation
    Skin Color
    The biology of skin color
    *Explorations in Diversity: Skin and Hair Color of the Neandertals
    Variation in human skin color
    The Evolution of Human Skin Color
    Selection for dark skin
    Selection for light skin
    Other Aspects of Human Pigmentation
    Hair color
    Eye color
    Chapter Summary
    Supplemental Resources

    Section IV: Population Studies and Human Behaviors

    Chapter 13: Population Structure and Population History
    Genetic Distances
    Computing genetic distances
    The representation of genetic distances
    Population Structure
    Factors effecting population structure
    Case study: The Aland Islands
    *Explorations in Diversity: The Colonization of the Pacific Ocean
    Case Studies in Population History
    Admixture in African Americans
    The population history of Ireland
    *Global Genetic Diversity and the History of the Human Species
    Levels of genetic diversity
    Genetic distance
    Gene trees
    Neandertal DNA
    Chapter Summary
    Supplemental Readings

    Chapter 14: Genetics, Behavior, and Human Variation
    Human Behavioral Genetics
    Genetics, environment, and behavior
    Case Studies in Behavioral Genetics
    Sexual orientation
    IQ test scores
    Chapter Summary
    Supplemental Resources