Comprehensive, advanced treatment of the nature and source of inherited characteristics, and mathematical techniques of population genetics. Mendelian populations, mutations, polymorphisms, genetic demography and natural selection, inbreeding, sexual dimorphism and human evolution, eugenics, euphenics, more. Emphasis on interpretation of data in relation to theoretical models. Minimal math background required.
The study of population genetics is an important factor in a broad range of fields, including medical genetics, public health, physical anthropology, sociology, and psychology. That is the premise underlying this thorough, advanced treatment of the nature and source of inherited characteristics, which provides the reader with a sound introduction to population genetics, including the mathematical techniques useful in this discipline. Prior to the publication of this book, no comprehensive treatment of the genetics of human populations emphasized the interpretation of data in relation to the theoretical models. This book fills the need for such a treatment.
Beginning with the basic concepts of genetics, the authors -- both world famous geneticists -- advance to discussions of Mendelian populations, mutations, transient and balanced polymorphisms, genetic demography and natural selection, and inbreeding. A review of population structure (focusing on genetic drift and migration) is followed by chapters on sexual dimorphism and human evolution; the book concludes with an examination of eugenics, euphenics, and human welfare.
The authors presume only a minimal background in mathematics, but they have provided additional material for readers with more extensive training in mathematical probability, segregation, and linkage analysis in human pedigrees and the estimation of gene frequencies, and sample problems. The result is an exceptionally advanced and comprehensive treatment of the subject that ranks as one of the standard teaching and reference works in its field.
Preface
Introduction
1 The Basic Concepts of Genetics
1.1 "Cells, DNA, and Protein"
1.2 The Synthesis of Proteins and the Genetic Code
1.3 Duplication of DNA and Cell Reproduction
1.4 The Formation of Gametes: Meiosis or Reduction
1.5 Mutation and Selection
1.6 Dominance and Recessiveness: Phenotype and Genotype
1.7 The Laws of Mendelian Inheritance
1.8 Linkage and Recombination
1.9 The Gene Concept
2 Mendelian Populations
2.1 Some Basic Factors of Population Genetics
2.2 "Phenotype, Genotype, and Gene Frequencies"
2.3 Prediction of Frequencies of Genotypes under Random Mating: The Hardy-Weinberg Equilibrium
2.4 Composition of an Equilibrium Population
2.5 Extension of the Hardy-Weinberg Theorem to Mulitple Alleles and to Polyploids
2.6 Testing Equilibrium and the Meaning of Departures from It
2.7 Sex-linked Genes
3 Deleterious Mutations and the Estimation of Mutation Rates
3.1 General Charateristics of Deleterious Mutations
3.2 Models Describing the Balancing Forces of Mutation and Selection
3.3 Kinetics of the Approach to Equilibrium
3.4 Estimation of Mutation Rates
3.5 Chromosomal Aberrations
3.6 Sex-linked Genes
3.7 Parental Age and Mutation
3.8 Average Mutation Rate per Locus per Generation
4 Transient and Balanced Polymorphisms
4.1 Definition of Polymorphism: Balanced (Stable) and Transient
4.2 Opposing Forces That Produce and Maintain Polymorphism
4.3 Stability of a Polymorphism
4.4 Kinetics of the Selection Process for Transient Polymorphisms
4.5 Kinetics of the Selection Process for Balanced Polymorphisms
4.6 The Sickle-cell Polymorphism
4.7 Relationship Between the Sickle-cell Polymorphism and Malaria
4.8 Other Polymorphisms That May Be Adaptions to Malaria
4.9 The Conditions for Simultaneous Polymorphism of Three Alleles at One Locus
4.10 X-linked Polymorphisms
4.11 Other Mechanisms That Lead to Balanced Polymorphism
5 "Polymorphisms for Blood Groups, Transplatation Antigens, and Serum Proteins: Incompatibility Selection"
5.1 Polymorphisms of Blood Components
5.2 Antigens and Antibodies
5.3 Rhesus Blood Groups and Hemolytic Disease of the Newborn
5.4 ABO Blood Groups and Blood Transfusion
5.5 ABO Blood Groups and Incompatibility Selection
5.6 Associations Between ABO Blood Groups and Disease
5.7 Other Red-blood-cell Groups
5.8 The Chemistry and Genetics of Polymorphism Related to ABO
5.9 The Complex Genetics of the Rheus Blood-group System
5.10 The Genetic Basis for Histocompatibility Differences
5.11 The HL-A Polymorphism
5.12 "The Gm Polymorphism, and the Genetic Control of Antibody Structure"
6 Genetic Demography and Natural Selection
6.1 Demography and the Measurement of Fitness
6.2 Age-specific Birth and Death Rates and the Intrinsic Rate of Increase of a Population
6.3 The Life Table and Lotka's Equation for the Intrinsic Rate of Increase
6.4 The Use of r for the Measurement of Selective Differences
6.5 The Distribution of Progeny Size
6.6 The Size of Investigations Needed to Measure Selection Intensity
6.7 Evolutionary Advance and the Index of Opportunity for Selection
6.8 The Fitness Flow Sheet
6.9 Sources of Data
7 Inbreeding
7.1 Consanguinity and Inbreeding
7.2 The Inbreeding Coefficient
7.3 Consequences of Inbreeding for Mendelian Populations
7.4 Average Inbreeding in Human Populations
7.5 Consequences of Inbreeding: Genetic Loads
7.6 Analysis of Data on Inbreeding Effects on Mortality
7.7 Effects of the Inbreeding Level on Equilibrium Gene Frequencies
7.8 Consanguinity and Detrimental Recessives
7.9 Retrospective Studies on Consanguinity Effects
7.10 "The Number of Genes Determining Mental Deficiency, Deafmutism, and Blindness"
7.11 "Estimation of Overall Mutation Rates for Recessive Genes, Taking Account of Inbreeding"
8 Population Structure
8.1 Random Genetic Drift
8.2 Prediction of the Extent of Variation of Gene Frequencies After n Generations
8.3 Heterogeneity Between Populations under Hardy-Weinberg Equilibrium and Wahlunds' Formula
8.4 Equilibrium Between Drift and Linear Evolutionary Pressures
8.5 The Interaction of Drift and Selection: Some Further Considerations
8.6 The Fate fo Single Mutant Genes
8.7 The Number of Alleles That Can Be Maintained in a Finite Population
8.8 Population Effective Size
8.9 Subdivision of a Species and Models of Isolation
8.10 Demographic Data Relevant to the Analysis of Drift
8.11 Genetic Migration: the Distribution of Distance Between Birthplaces of Parent and Offspring
8.12 Analysis of Geographic Variation
8.13 Analysis of Correlation and Covariation with Distance
8.14 Migration Matrices
8.15 Predicting Drift by Computer Simulation
8.16 Drift in Time
8.17 Inbreeding and Drift
8.18 Estimation of the Expected Proportions of Consanguineous Matings
8.19 Isonymy
8.20 A Comparison and Summary of Methods of Measuring the Amount of Kinship and Ascertaining the Effect of Drift
8.21 The Problem of Isolate Size
8.22 Gene Diffusion
8.23 Gene Flow
9 "Quantitative Characters, Polygenic Inheritance, and Environmental Interactions"
9.1 The Physiology of Continuous Variation
9.2 Genetic Models of Quantitative Variation
9.3 Interaction of Genotype and Environment
9.4 The Basic Model of Polygenic Inheritance
9.5 Skin Color as an Example of Polgenic Inheritance
9.6 Partitioning the Genetic Variance in a Random-mating Population
9.7 Assortative Mating and its Effect on Quantitative Characters
9.8 Inbreeding Effects
9.9 Heritability of Threshold Characters
9.10 The Biological Basis of Twinning
9.11 The Use of Twins for the Study of Genetic Determination of Traits
9.12 The Problem of Nature vesus Nurture and the Limitations to the Concept of Heritability
9.13 The Effect of Natural Selection on Quantitative Characters
9.14 The Genetics of Schizophrenia
10 The Sexual Dimorphism
10.1 Sex Determination
10.2 The X-Chromosome Map
10.3 Sex-chromosome Abnormalities
10.4 Y-linkage and Partial Sex Linkage
10.5 Dosage Compensation and X-inactivation
10.6 The Sex Ratio
10.7 Natural Selection and the Sex Ratio
10.8 The Evolution of the Sexual Dimorphism
11 Human Evolution
11.1 Fossil Evidence on the Origin of Man
11.2 "Primates, Hominoids, and Hominids"
11.3 Paleolithic and Neolithic Man
11.4 Racial Differentiation in Man
11.5 "Measurement of Genetic Similarity and Distance Between Populations, Using Polymorphic Genes"
11.6 Analysis of Racial Differences on the Basis of Polymorphic Genes
11.7 Methods of Phylogenetic Analysis
11.8 The Frequency of Polymorphisms and Its Meanings
11.9 Molecular Evolution and Fate of Amino Acid Substitutions in Proteins
11.10 Theoretical Considerations on the Mean Time for Gene Substitution
11.11 The Relative Roles of Natural Selection and Drift in Human Evolution
12 "Eugenics, Euphenics, and Human Welfare"
12.1 The History of Eugenics and some General Problems of Its Practice
12.2 Prospects for Negative Eugenics
12.3 Eugenic Potentialities of Consanguineous and Assortative Mating
12.4 Methods of Positive Eugenics
12.5 Euphenics and Genetic Engineering
12.6 Cultural Evolution and Its Effect on Natural Selection
12.7 Other Interactions of Cultural and Biological Evolution in Man
12.8 Patterns of Fertility
12.9 Migration
12.10 Environmental Pollution and Mutagenicity
12.11 Segregation and Amalgamation
12.12 Race and Society
12.13 Changes in the Complexity of Society
Appendix I Statistics and Probability
I.1 Introduction
I.2 Distribution
I.3 Expected Values
I.4 The Normal Distribution
I.5 Variance
I.6 Parameters
I.7 Change of Scale and Location-Mean and Variance of a Function of the Original Variable
I.8 Moments
I.9 The Combination of Probabilities
I.10 The Binomial Distribution
I.11 The Poisson Distribution
I.12 The Geometric Distribution
I.13 The Negative Binomial Distribution
I.14 The Multinomial Distribution
I.15 The Gamma Distribution
I.16 Distributions of Sums of Variables in Some Special Cases
I.17 The Exponential Distribution
I.18 Beta Distributions
I.19 The Lognormal Distribution
I.20 Analysis of Data
I.21 Statistics and Estimation
I.22 Maximum Likelihood Estimation
I.23 Significance Tests and Confidence Limits
I.24 Significance of the Difference Between Observed Means
I.25 One-way Analysis of Variance and the F or Variance Ratio Distribution
I.26 Analysis of Variance
I.27 Goodness of Fit and the Chi-square Test
I.28 2 x 2 Contingency Tables
I.29 2 x k and 1 x k Contigency Tables
I.30 Goodness of fit of the Poisson Distribution
I.31 "Pairs of Measurements, Correlation, and Regression"
I.32 The Bivariate Normal Distribution
I.33 Multinomial Distributions
I.34 Analysis of Observed Pairs of Measurements
I.35 Linear Regression Analysis
I.36 Intraclass Correlation Coefficient
I.37 Fisher's Scoring Method for the Solution of Maximum Likelihood Equations: One Parameter
I.38 Scoring for Several Parameters
I.39 An Example of a Computer Program
Appendix II Segregation and Linkage Analysis in Human Pedigrees and the Estimation of Gene Frequencies
II.1 Pedigrees and Segregation Analysis
II.2 Modes of Ascertainment
II.3 Truncate Selection
II.4 Single Selection
II.5 Multiple Selection
II.6 Sporadic Cases
II.7 Inbreeding in Sporadic Cases
II.8 Estimation of Prevalence with Incomplete Selection
II.9 The Separation of Segregating and Nonsegregating Families with Complete Selection
II.10 Incorporation of Family-size Distributions for the Estimation of Prevalence
II.11 Analysis of Linkage in Human Pedigrees
II.12 Linkage Analysis by Likelihood
II.13 Heterogeneity of Linkage Estimates
II.14 General Methods and Tables for Linkage Analysis
II.15 Partial Sex Linkage
II.16 Map Length and Physical Length
II.17 Assignment of Genes to Chromosomes
II.18 Estimation of Gene Frequencies
II.19 Samples of Related Individuals
Appendix III Sample Problems
Literature Cited
Indexes