دانلود کتاب The Genetics of Human Populations

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- Preface 1. "The Basic Concepts of Genetics" -- Cells, DNA, and Protein -- The Synthesis of Proteins and the Genetic Code -- Duplication of DNA and Cell Reproduction -- The Formation of Gametes: Meiosis or Reduction -- Mutation and Selection -- Dominance and Recessiveness: Phenotype and Genotype -- The Laws of Mendelian Inheritance -- Linkage and Recombination -- The Gene Concept 2. "Mendelian Populations" -- Some Basic Factors of Population Genetics -- Phenotype, Genotype, and Gene Frequencies -- Prediction of Frequencies of Genotypes under Random Mating: The Hardy-Weinberg Equilibrium -- Composition of an Equilibrium Population -- Extension of the Hardy-Weinberg Theorem to Multiple Alleles and to Polyploids -- Testing Equilibrium and the Meaning of Departures from It -- Sex-linked Genes 3. "Deleterious Mutations and the Estimation of Mutation Rates" -- General Characteristics of Deleterious Mutations -- Models Describing the Balancing Forces of Mutation and Selection -- Kinetics of the Approach to Equilibrium -- Estimation of Mutation Rates -- Chromosomal Aberrations -- Sex-linked Genes -- Parental Age and Mutation -- Average Mutation Rate per Locus per Generation 4. "Transient and Balanced Polymorphisms" Definition of Polymorphism: Balanced (Stable) and Transient -- Opposing Forces That Produce and Maintain Polymorphism -- Stability of a Polymorphism -- Kinetics of the Selection Process for Transient Polymorphisms -- Kinetics of the Selection Process for Balanced Polymorphisms -- The Sickle-cell Polymorphism -- Relationship Between the Sickle-cell Polymorphism and Malaria -- Other Polymorphisms That May Be Adaptations to Malaria -- The Conditions for Simultaneous Polymorphism of Three Alleles at One Locus -- X-linked Polymorphisms -- Other Mechanisms That Lead to Balanced Polymorphism 5. "Polymorphisms for Blood Groups, Transplantation Antigens, and Serum Proteins: Incompatibility Selection" -- Polymorphisms of Blood Components -- Antigens and Antibodies -- Rhesus Blood Groups and Hemolytic Disease of the Newborn -- ABO Blood Groups and Blood Transfusion -- ABO Blood Groups and Incompatibility Selection -- Associations Between ABO Blood Groups and Disease -- Other Red-blood-cell Groups -- The Chemistry and Genetics of Polymorphisms Related to ABO -- The Complex Genetics of the Rhesus Blood-group System -- The Genetic Basis for Histocompatibility Differences -- The HL-A Polymorphism -- The Gm Polymorphism, and the Genetic Control of Antibody Structure 6. "Genetic Demography and Natural Selection" -- Demography and the Measurement of Fitness -- Age-specific Birth and Death Rates and the Intrinsic Rate of Increase of a Population -- The Life Table and Lotka's Equation for the Intrinsic Rate of Increase -- The Use of _r_ for the Measurement of Selective Differences -- The Distribution of Progeny Size -- The Size of Investigations Needed to Measure Selection Intensity -- Evolutionary Advance and the Index of Opportunity for Selection -- The Fitness Flow Sheet -- Sources of Data 7. "Inbreeding" -- Consanguinity and Inbreeding -- The Inbreeding Coefficient -- Consequences of Inbreeding for Mendelian Populations -- Average Inbreeding in Human Populations -- Consequences of Inbreeding: Genetic Loads -- Analysis of Data on Inbreeding Effects on Mortality -- Effects of the Inbreeding Level on Equilibrium Gene Frequencies -- Consanguinity and Detrimental Recessives -- Retrospective Studies on Consanguinity Effects -- The Number of Genes Determining Mental Deficiency, Deafmutism, and Blindness -- Estimation of Overall Mutation Rates for Recessive Genes, Taking Account of Inbreeding 8. "Population Structure" -- Random Genetic Drift -- Prediction of the Extent of Variation of Gene Frequencies After _n_ Generations -- Heterogeneity Between Populations under Hardy-Weinberg Equilibrium and Wahlund's Formula -- Equilibrium Between Drift and Linear Evolutionary Pressures -- The Interaction of Drift and Selection: Some Further Considerations -- The Fate of Single Mutant Genes -- The Number of Alleles That Can Be Maintained in a Finite Population -- Population Effective Size -- Subdivision of a Species and Models of Isolation -- Demographic Data Relevant to the Analysis of Drift -- Genetic Migration: the Distribution of Distances Between Birthplaces of Parent and Offspring -- Analysis of Geographic Variation -- Analysis of Correlation and Covariation with Distance -- Migration Matrices -- Predicting Drift by Computer Simulation -- Drift in Time -- Inbreeding and Drift -- Estimation of the Expected Proportions of Consanguineous Matings -- Isonymy -- A Comparison and Summary of Methods of Measuring the Amount of Kinship and Ascertaining the Effect of Drift -- The Problem of Isolate Size -- Gene Diffusion -- Gene Flow 9. "Quantitative Characters, Polygenic Inheritance, and Environmental Interactions" -- The Physiology of Continuous Variation -- Genetic Models of Quantitative Variation -- Interaction of Genotype and Environment -- The Basic Model of Polygenic Inheritance -- Skin Color as an Example of Polygenic Inheritance -- Partitioning the Genetic Variance in a Random-mating Population -- Assortative Mating and its Effect on Quantitative Characters -- Inbreeding Effects -- Heritability of Threshold Characters -- The Biological Basis of Twinning -- The Use of Twins for the Study of the Genetic Determination of Traits -- The Problem of Nature versus Nurture and the Limitations to the Concept of Heritability -- The Effect of Natural Selection on Quantitative Characters -- The Genetics of Schizophrenia 10. "The Sexual Dimorphism" -- Sex Determination -- The X-Chromosome Map -- Sex-chromosome Abnormalities -- Y-linkage and Partial Sex Linkage -- Dosage Compensation and X-inactivation -- The Sex Ratio -- Natural Selection and the Sex Ratio -- The Evolution of the Sexual Dimorphism 11. "Human Evolution" -- Fossil Evidence on the Origin of Man -- Primates, Hominoids, and Hominids -- Paleolithic and Neolithic Man -- Racial Differentiation in Man -- Measurement of Genetic Similarity and Distance Between Populations, Using Polymorphic Genes -- Analysis of Racial Differences on the Basis of Polymorphic Genes -- Methods of Phylogenetic Analysis -- The Frequency of Polymorphisms and Its Meaning -- Molecular Evolution and the Fate of Amino Acid Substitutions in Proteins -- Theoretical Considerations on the Mean Time for Gene Substitution -- The Relative Roles of Natural Selection and Drift in Human Evolution 12. Eugenics, Euphenics, and Human Welfare -- The History of Eugenics and some General Problems of Its Practice -- Prospects for Negative Eugenics -- Eugenic Potentialities of Consanguineous and Assortative Mating -- Methods of Positive Eugenics -- Euphenics and Genetic Engineering -- Cultural Evolution and Its Effect on Natural Selection -- Other Interactions of Cultural and Biological Evolution in Man -- Patterns of Fertility -- Migration -- Environmental Pollution and Mutagenicity -- Segregation and Amalgamation -- Race and Society -- Changes in the Complexity of Society - Appendix 1: "Statistics and Probability" -- Introduction -- Distribution -- Expected Values -- The Normal Distribution -- Variance -- Parameters -- Change of Scale and Location-Mean and Variance of a Function of the Original Variable -- Moments -- The Combination of Probabilities -- The Binomial Distribution -- The Poisson Distribution -- The Geometric Distribution -- The Negative Binomial Distribution -- The Multinomial Distribution -- The Gamma Distribution -- Distributions of Sums of Variables in Some Special Cases -- The Exponential Distribution -- Beta Distributions -- The Lognormal Distribution -- Analysis of Data -- Statistics and Estimation -- Maximum Likelihood Estimation -- Significance Tests and Confidence Limits -- Significance of the Difference Between Observed Means -- One-way Analysis of Variance and the _F_ or Variance Ratio Distribution -- Analysis of Variance -- Goodness of Fit and the Chi-square Test -- 2 x 2 Contingency Tables -- 2 x _k_ and _l_ x _k_ Contingency Tables -- Goodness of fit of the Poisson Distribution -- Pairs of Measurements, Correlation, and Regression -- The Bivariate Normal Distribution -- Multinomial Distributions -- Analysis of Observed Pairs of Measurements -- Linear Regression Analysis -- Intraclass Correlation Coefficient -- Fisher's Scoring Method for the Solution of Maximum Likelihood Equations: One Parameter -- Scoring for Several Parameters -- An Example of a Computer Program - Appendix II: "Segregation and Linkage Analysis in Human Pedigrees and the Estimation of Gene Frequencies" -- Pedigrees and Segregation Analysis -- Modes of Ascertainment -- Truncate Selection -- Single Selection -- Multiple Selection -- Sporadic Cases -- Inbreeding in Sporadic Cases -- Estimation of Prevalence with Incomplete Selection -- The Separation of Segregating and Nonsegregating Families with Complete Selection -- Incorporation of Family-size Distributions for the Estimation of Prevalence -- Analysis of Linkage in Human Pedigrees -- Linkage Analysis by Likelihood -- Heterogeneity of Linkage Estimates -- General Methods and Tables for Linkage Analysis -- Partial Sex Linkage -- Map Length and Physical Length -- Assignment of Genes to Chromosomes -- Estimation of Gene Frequencies -- Samples of Related Individuals - Appendix III: "Sample Problems" - Literature Cited - Indexes