Human Biological Variation
Second Edition
James H. Mielke, Lyle W. Konigsberg, and John H. Relethford
Table of Contents
* = new to this edition
Table of Contents
Preface
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
Polygenism
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
Mitosis
Meiosis
Deoxyribonucleic Acid (DNA)
The molecular composition of DNA
Replication
Transcription
Translation
From Genotype to Phenotype
Dominance
Mutation
Substitutions
Insertions and deletions
Recombinations
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
Inbreeding
Evolutionary Forces
Mutation
Selection
Drift
Migration
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
Cholera
Syphilis (treponemal diseases)
Plague
Smallpox
*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-
Glycoproteins
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
Thalassemias
Alpha-thalassemias
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
Mutation
Selection
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
Genetics
*Explorations in Diversity: Can We Tell Race from Cranial Measurements?
Human growth
Aging
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
Dyslexia
Sexual orientation
IQ test scores
Chapter Summary
Supplemental Resources
Glossary
References
Index