Mielke J.H. Human biological variation / J.H.Mielke, L.W.Konigsberg, J.H.Relethford. - 2nd ed. - New York; Oxford: Oxford University Press, 2011. - xv, 443 p.: ill., maps, ports. - Ref.: p.379-422. - Ind.: p.423-443. - ISBN 978-0-19538740-7  Место хранения:   03 | Центральная библиотека Иркутского научного центра СО РАН | Иркутск

Оглавление / Contents

Preface ...................................................... xiii SECTION 1: Background 1 Comprehending Human Biological Diversity ..................... 3 The Beginnings of Western Classification Systems ............. 3 Classifying the Diversity .................................... 4 A Shift in Racial Classifications ............................ 7 Polygenism ................................................... 9 More Measuring of Skulls and the Ideal Type ................. 11 Typological Approach ........................................ 11 Mendelian Genetics and Race ................................. 12 Questioning the Usefulness of the Race Concept .............. 13 A Genetic Definition of Race ................................ 14 Clines and Populations ...................................... 18 So, Where Are We Today? ..................................... 19 Chapter Summary ............................................. 20 Supplemental Resources ...................................... 21 2 The Genetic Basis of Human Variation ........................ 23 A Minimalist View of the Requirements for Inheritance via DNA ......................................................... 23 Mitosis Produces Identical Nuclear DNA in Daughter Cells .................................................... 23 Meiosis Produces Haploid Daughter Cells .................. 24 Human Chromosomes ........................................... 24 The Processes of Cell Division .............................. 27 Mitosis .................................................. 28 Meiosis .................................................. 30 DNA ......................................................... 31 The Molecular Composition of DNA ......................... 31 Replication .............................................. 32 Transcription ............................................ 33 Translation .............................................. 35 From Genotype to Phenotype .................................. 38 Dominance ................................................ 39 Mutation .................................................... 40 Substitutions ............................................ 40 Insertions and Deletions ................................. 40 Recombinations ........................................... 41 Translocations and Nondisjunctions ....................... 41 Mutation Frequencies ..................................... 43 Basic Transmission Genetics: The Mendelian Laws ............. 43 Mendel's First Law: Segregation of Alleles ............... 44 Mendel's Second Law: Independent Assortment of Alleles ... 44 Beyond Mendel ............................................... 46 Sex-Linked Inheritance ................................... 46 Mitochondrial DNA ........................................ 47 Explorations in diversity: Telomere Length and Aging ..... 48 What Is a Gene? ............................................. 48 Chapter Summary ............................................. 48 Supplemental Resources ...................................... 49 3 Population Genetics and Human Variation ...................... 50 Probability Theory .......................................... 50 Probability Rules ........................................ 50 Hardy-Weinberg Equilibrium .................................. 51 Allele Frequencies ....................................... 52 Expected Genotype Frequencies ............................ 53 Why Is Hardy-Weinberg Equilibrium Important? ............. 56 How Can We Tell If a Population Is in Hardy-Weinberg Equilibrium? ............................................. 57 Departures from Hardy-Weinberg Equilibrium .................. 58 Multiple-Locus Hardy-Weinberg Equilibrium ................ 58 Assortative Mating ....................................... 63 Inbreeding ............................................... 65 Evolutionary Forces ......................................... 68 Mutation ................................................. 68 Selection ................................................ 70 Drift .................................................... 76 Migration ................................................ 84 Combining Forces ......................................... 85 Chapter Summary ............................................. 87 Supplemental Resources ...................................... 88 SECTION 2: Variation in Genes, Simple Genetic Traits, and DNA Markers 4 Blood Group Polymorphisms ................................... 91 Antigens, Antibodies, and the Immune System ................. 91 The Immune System ........................................ 91 Genetic Polymorphisms in the Blood .......................... 95 ABO, Hh (FUT1), Secretor (FUT2), and Lewis (FUT3) Systems ... 95 The ABO Histo-Blood Group System ......................... 95 Hh (FUT1) and Bombay .................................... 98 The Secretor System (FUT2) ............................... 99 The Lewis System (FUT3) .................................. 99 Explorations in diversity: Histo-Blood Groups and Diet .................................................... 100 Geographical Distribution and Natural Selection of the ABO Histo-Blood Group System ............................... 102 Cholera ................................................. 107 Syphilis (Treponemal Diseases) .......................... 107 Plague .................................................. 107 Smallpox ................................................ 108 Pathogen Receptors ...................................... 108 Blood Group Associations ................................ 111 Other Possible Selective Factors Molding the ABO System .................................................. 112 The Rh System .............................................. 113 The Rh System and Selection ............................. 114 Explorations in diversity: Erythrocytes as Pathogen Decoys .................................................. 117 The MNSs Blood Group System ................................ 117 The Duffy Blood Group System ............................... 120 Other Blood Groups ......................................... 121 Chapter Summary ............................................ 121 Supplemental Resources ..................................... 122 5 Plasma Proteins and Red Cell Enzymes ....................... 123 Detection of Genetic Polymorphisms ......................... 123 Some Plasma Proteins ....................................... 124 Haptoglobin (α2-globulins) .............................. 126 Transferrin ............................................. 127 Group-Specific Component or Vitamin D-Binding Protein ... 127 Immunoglobulins (Gm-Am and Km) .......................... 129 Apolipoproteins, β-Lipoproteins, and β2-Glycoproteins ... 131 Other Plasma Proteins ................................... 131 Explorations in diversity: Novel Ways to Explore Human Variation and Evolution ................................. 132 Red Cell Enzymes ........................................... 133 Glucose-6-Phosphate Dehydrogenase ....................... 133 Other Enzyme Systems of Anthropological Interest ........ 137 Exploring Population Structure with Classical Markers ...... 138 Example 1: The Irish Travelers or Tinkers ............... 138 Example 2: The Origins of Indo-Europeans ................ 138 Chapter Summary ............................................ 142 Supplemental Resources ..................................... 142 6 Human Leukocyte Antigen Polymorphism ....................... 143 The Major Histocompatibility Complex ....................... 143 Location and Organization of the MHC ....................... 143 Linkage Disequilibrium ..................................... 146 HLA and Disease Associations ............................... 147 Explorations in diversity: HLA and Mate Choice? ......... 149 HLA and Population Diversity ............................... 150 Chapter Summary ............................................ 155 Supplemental Resources ..................................... 155 7 Human Hemoglobin Variants .................................. 157 Beginnings of Hemoglobin Research .......................... 157 The Hemoglobin Molecule and Hemoglobin Genes ............... 157 Hemoglobin Variants ........................................ 159 The Geographic Distribution of the Sickle Cell Allele ...... 161 How Resistance to Falciparum Malaria Works .............. 164 The Possibility of Differential Fertility .................. 165 Origin of the Sickle Cell Allele ........................... 165 Single-Mutation Theory .................................. 165 Multiple-Mutation Theory ................................ 167 Other Hemoglobinopathies ................................... 170 Hemoglobin E ............................................ 170 Hemoglobin С ............................................ 171 Other Hemoglobinopathies of Anthropological Interest .... 172 Thalassemias ............................................... 172 α-Thalassemias .......................................... 172 β-Thalassemias .......................................... 175 Thalassemia Haplotypes ..................................... 176 The Thalassemias and Natural Selection ..................... 177 Chapter Summary ............................................ 180 Supplemental Resources ..................................... 180 8 Milk, Taste, and Cerumen ................................... 182 Lactase Restriction and Persistence ........................ 182 Taste: Phenylthiocarbamide (6-n-propylthiouracil) .......... 188 Variation in Ear Wax or Cerumen ............................ 193 Chapter Summary ............................................ 196 Supplemental Resources ..................................... 197 9 DNA Markers ................................................ 198 Molecular Genetic Techniques and DNA Variation ............. 198 Polymerase Chain Reaction ............................... 198 Restriction Fragment Length Polymorphisms ............... 201 Insertions and Deletions ................................ 204 Interspersed Nuclear Elements: SINEs and LINEs .......... 206 DNA Sequencing .......................................... 207 Tandem Repeats .......................................... 219 Explorations in diversity: Copy Number Variants ......... 221 American Indians ........................................... 222 The Cohen Modal Haplotype and the Diaspora ................. 225 How Many Races Are Documented in Our DNA? .................. 229 DNA Markers and Individual Variation ....................... 230 Thomas Jefferson and the Descendants of Sally Hemings ... 231 Who Is Buried in Jesse James's Grave? ................... 234 Chapter Summary ............................................ 235 Supplemental Resources ..................................... 236 SECTION 3: Variation in Complex Traits 10 Quantitative Variation ..................................... 239 The Mendelian Basis for Quantitative Trait Variation ....... 239 Components of Variation for a Quantitative Trait ........ 243 Estimation of Narrow Sense Heritability .................... 244 Narrow Sense Heritability of the Cephalic Index ............ 250 Multiple Quantitative Traits ............................... 255 Evolution and Quantitative Traits .......................... 256 Mutation ................................................ 256 Selection ............................................... 256 Genetic Drift and Migration ............................. 257 Explorations in diversity: QTLs, LODs, and AIMs ......... 258 Chapter Summary ............................................ 258 Supplemental Resources ..................................... 259 11 Anthropometric Variation ................................... 260 Anthropometric Measures .................................... 260 Body Measures ........................................... 260 Skinfolds ............................................... 263 Head Measures ........................................... 264 Variation Within Populations ............................... 267 Genetics ................................................ 267 Explorations in diversity: Can We Tell Race from Cranial Measurements? ................................... 268 Human Growth ............................................ 270 Aging ................................................... 277 Sexual Dimorphism ....................................... 277 Environmental Variations ................................... 280 Correlations with Climate ............................... 280 High-Altitude Adaptation ................................ 286 Explorations in diversity: The Practical Value of Anthropometry ........................................... 288 Chapter Summary ............................................ 289 Supplemental Resources ..................................... 290 12 Pigmentation ............................................... 291 Skin Color ................................................. 291 The Biology of Skin Color ............................... 291 Variation in Human Skin Color ........................... 298 Explorations in diversity: Skin and Hair Color of the Neandertals ............................................. 299 The Evolution of Human Skin Color .......................... 302 Selection for Dark Skin ................................. 303 Selection for Light Skin ................................ 305 Other Aspects of Human Pigmentation ........................ 309 Hair Color .............................................. 309 Eye Color ............................................... 311 Chapter Summary ............................................ 312 Supplemental Resources ..................................... 313 SECTION 4: Population Studies and Human Behaviors 13 Population Structure and Population History ................ 317 Genetic Distance ........................................... 317 Computing Genetic Distance .............................. 318 The Representation of Genetic Distance .................. 320 Population Structure ....................................... 322 Factors Affecting Population Structure .................. 322 Case Study: The Åland Islands ........................... 326 Case Studies in Population History ......................... 329 Admixture in African Americans .......................... 329 Explorations in diversity: The Colonization of the Pacific Ocean ........................................... 330 The Population History of Ireland ....................... 333 Global Genetic Diversity and the History of the Human Species .................................................... 336 Levels of Genetic Diversity ............................. 336 Genetic Distance ........................................ 340 Gene Trees .............................................. 341 Neandertal DNA .......................................... 342 Chapter Summary ............................................ 342 Supplemental Resources ..................................... 343 14 Genetics, Behavior, and Human Variation .................... 344 Human Behavioral Genetics .................................. 344 Genetics, Environment, and Behavior ..................... 345 Methods of Behavioral Genetics .......................... 345 Case Studies in Behavioral Genetics ........................ 346 Dyslexia ................................................ 346 Sexual Orientation ...................................... 348 IQ Test Scores .......................................... 353 Chapter Summary ......................................... 363 Supplemental Resources .................................. 363 Glossary ...................................................... 365 References .................................................... 379 Index ......................................................... 423