Efnisyfirlit

• Cover
• HalfTitle Page
• Title Page
• Copyright Page
• Preface
• Acknowledgments
• Table of Contents
• Detailed Contents
• Chapter 1: An Introduction to Human Evolutionary Genetics
  • 1.1 What is human evolutionary genetics?
  • 1.2 Insights into phenotypes and diseases
    • A shared evolutionary history underpins our understanding of biology
    • Understanding evolutionary history is essential to understanding human biology today
    • Understanding evolutionary history shapes our expectations about the future
  • 1.3 Complementary records of the human past
    • Understanding chronology allows comparison of evidence from different scientific approaches
    • It is important to synthesize different records of the past
    • None of the different records represents an unbiased picture of the past
  • 1.4 What can we know about the past?
  • 1.5 The ethics of studying human populations
  • Summary
  • References
• Section 1: How do we study genome diversity?
  • Chapter 2: Organization and inheritance of the human genome
    • 2.1 The Big Picture: An Overview of the human genome
    • 2.2 Structure of DNA
    • 2.3 Genes, Transcription, and Translation
      • Genes are made up of introns and exons, and include elements to initiate and regulate transcription
      • The genetic code allows nucleotide sequences to be translated into amino acid sequences
      • Gene expression is highly regulated in time and space
    • 2.4 Noncoding DNA
      • Some DNA sequences in the genome are repeated in multiple copies
    • 2.5 Human chromosomes and the human karyotype
      • The human genome is divided into 46 chromosomes
      • Size, centromere position, and staining methods allow chromosomes to be distinguished
    • 2.6 Mitosis, meiosis, and the inheritance of the genome
    • 2.7 Recombination—the great reshuffler
    • 2.8 Nonrecombining segments of the genome
      • The male-specific Y chromosome escapes crossing over for most of its length
      • Maternally inherited mtDNA escapes from recombination
    • Summary
    • Questions
    • References
  • Chapter 3: Human genome variation
    • 3.1 Genetic Variation and the Phenotype
      • Some DNA sequence variation causes Mendelian genetic disease
      • The relationship between genotype and phenotype is usually complex
      • Mutations are diverse and have different rates and mechanisms
    • 3.2 Single Nucleotide Polymorphisms (Snps) in the Nuclear Genome
      • Base substitutions can occur through base misincorporation during DNA replication
      • Base substitutions can be caused by chemical and physical mutagens
      • Sophisticated DNA repair processes can fix much genome damage
      • The rate of base substitution can be estimated indirectly or directly
      • Because of their low mutation rate, SNPs usually show identity by descent
      • The CpG dinucleotide is a hotspot for mutation
      • Base substitutions and indels can affect the functions of genes
        • Synonymous base substitutions
        • Nonsynonymous base substitutions
        • Indels within genes
        • Base substitutions outside ORFs
      • Whole-genome resequencing provides an unbiased picture of SNP diversity
    • 3.3 Sequence Variation in Mitochondrial DNA
      • mtDNA has a high mutation rate
      • The transmission of mtDNA mutations between generations is complex
    • 3.4 Variation in Tandemly Repeated DNA Sequences
      • Microsatellites have short repeat units and repeat arrays, and mutate through replication slippage
        • Microsatellite mutation rates and processes
      • Minisatellites have longer repeat units and arrays, and mutate through recombination mechanisms
        • Minisatellite diversity and mutation
      • Telomeres contain specialized and functionally important repeat arrays
      • Satellites are large, sometimes functionally important, repeat arrays
    • 3.5 Transposable Element Insertions
    • 3.6 Structural Variation in the Genome
      • Some genomic disorders arise from recombination between segmental duplications
      • Copy-number variation is widespread in the human genome
      • Cytogenetic examination of chromosomes can reveal large-scale structural variants
    • 3.7 The Effects of Age and sex on Mutation Rate
    • 3.8 The effects of Recombination on Genome Variation
      • Genomewide haplotype structure reveals past recombination behavior
      • Recombination behavior can be revealed by direct studies in pedigrees and sperm DNA
      • The process of gene conversion results in nonreciprocal exchange between DNA sequences
    • Summary
    • Questions
    • References
  • Chapter 4: Finding and assaying genome diversity
    • 4.1 First, Find Your DNA
    • 4.2 The polymerase chain reaction (PCR)
    • 4.3 Sanger sequencing, the human reference sequence, and snp discovery
    • 4.4 A Quantum Leap in variation studies: next-generation sequencing
      • Illumina sequencing is a widely used NGS method
      • Sequencing can be targeted to regions of specific interest or the exome
      • NGS data have to be processed and interpreted
      • Third-generation methods use original, unamplifiedDNA
    • 4.5 SNP typing: low-, medium-, and high-throughput methods for assaying variation
      • PCR-RFLP typing is a simple low-throughput method
      • Primer extension and detection by mass spectrometry is a medium-throughput method
      • High throughput SNP chips simultaneously analyze more than 1 million SNPs
      • Whole-genome SNP chips are based on a tag SNP design
    • 4.6 Databases of sequence variation
    • 4.7 Discovering and assaying variation at microsatellites
    • 4.8 Discovering And Assaying structural variation on different scales
      • Discovering and assaying variation at minisatellites
      • Discovering and assaying variation at well-defined indels, including Alu/LINE polymorphisms
      • Discovering and assaying structural polymorphisms and copy-number variants
    • 4.9 Phasing: from genotypes to haplotypes
      • Haplotypes can be determined by physical separation
      • Haplotypes can be determined by statistical methods
    • 4.10 Studying genetic variation in ancient samples
      • DNA is degraded after death
      • Contamination is a major problem
      • Application of next-generation sequencing to aDNA analysis
    • Summary
    • Questions
    • References
• Section 2: How do we interpret genetic variation?
  • Chapter 5: Processes shaping diversity
    • 5.1 Basic concepts in population genetics
      • Why do we need evolutionary models?
      • The Hardy–Weinberg equilibrium is a simple model in population genetics
    • 5.2 Generating diversity by mutation and recombination
      • Mutation changes allele frequencies
      • Mutation can be modeled in different ways
      • Meiotic recombination generates new combinations of alleles
      • Linkage disequilibrium is a measure of recombination at the population level
      • Recombination results in either crossing over or gene conversion, and is not uniform across the genome
    • 5.3 Eliminating diversity by genetic drift
      • The effective population size is a key concept in population genetics
      • Different parts of the genome have different effective population sizes
      • Genetic drift causes the fixation and elimination of new alleles
      • Variation in census population size and reproductive success influence effective population size
      • Population subdivision can influence effective population size
      • Mate choice can influence effective population size
      • Genetic drift influences the disease heritages of isolated populations
    • 5.4 The effect of selection on diversity
      • Mate choice can affect allele frequencies by sexual selection
    • 5.5 Migration
      • There are several models of migration
      • There can be sex-specific differences in migration
    • 5.6 Interplay among the different forces of evolution
      • There are important equilibria in population genetics
        • Mutation–drift balance
        • Recombination–drift balance
        • Mutation–selection balance
      • Does selection or drift determine the future of an allele?
    • 5.7 The neutral theory of molecular evolution
      • The molecular clock assumes a constant rate of mutation and can allow dating of speciation
      • There are problems with the assumptions of the molecular clock
    • Summary
    • Questions
    • References
  • Chapter 6: Making inferences from diversity
    • 6.1 What data can we use?
    • 6.2 Summarizing genetic variation
      • Heterozygosity is commonly used to measure genetic diversity
      • Nucleotide diversity can be measured using the population mutation parameter theta (θ)
      • The mismatch distribution can be used to represent genetic diversity
    • 6.3 Measuring genetic distance
      • Genetic distances between populations can be measured using FST or Nei’s D statistics
      • Distances between alleles can be calculated using models of mutation
      • Genomewide data allow calculation of genetic distances between individuals
      • Complex population structure can be analyzed statistically
      • Population structure can be analyzed using genomic data
      • Genetic distance and population structure can be represented using multivariate analyses
    • 6.4 Phylogenetics
      • Phylogenetic trees have their own distinctive terminology
      • There are several different ways to reconstruct phylogenies
      • Trees can be constructed from matrices of genetic distances
      • Trees can be generated using character-based methods
      • How confident can we be of a particular phylogenetic tree?
      • Networks are methods for displaying multiple equivalent trees
    • 6.5 Coalescent approaches to reconstructing population history
      • The genealogy of a DNA sequence can be described mathematically
      • Neutral mutations can be modeled on the gene genealogy using Poisson statistics
      • Coalescent analysis can be a simulation tool for hypothesis testing
      • Coalescent analysis uses ancestral graphs to model selection and recombination
      • Coalescent models of large datasets are approximate
    • 6.6 Dating evolutionary events using genetic data
      • Dating population splits using FST and Nei’s D statistics is possible, but requires a naive view of human evolution
      • Evolutionary models can include the timing of evolutionary events as parameters
        • Evolutionary models and effective population size
      • An allele can be dated using diversity at linked loci
        • Interpreting TMRCA
      • Estimations of mutation rate can be derived from direct measurements in families or indirect comparisons of species
      • An estimate of generation time is required to convert some genetic date estimates into years
    • 6.7 Has selection been acting?
      • Differences in gene sequences between species can be used to detect selection
      • Comparing variation between species with variation within a species can detect selection
      • Selection tests can be based on the analysis of allele frequencies at variant sites
      • Comparing haplotype frequency and haplotype diversity can reveal positive selection
      • Analysis of frequency differences between populations can indicate positive selection
      • Other methods can be used to detect ongoing or very recent positive selection
      • How can we combine information from different statistical tests?
      • Tests for positive selection have severe limitations
    • 6.8 Analyzing genetic data in a geographical context
      • Genetic data can be displayed on maps
      • Genetic boundary analysis identifies the zones of greatest allele frequency change within a genetic landscape
      • Spatial autocorrelation quantifies the relationship of allele frequency with geography
      • Mantel testing is an alternative approach to examining a relationship between genetic distance and other distance measures
    • Summary
    • Questions
    • References
• Section 3: Where and when did humans originate?
  • Chapter 7: Humans as apes
    • Which nonhuman animals are the closest living relatives of humans?
    • Are humans typical apes?
    • 7.1 Evidence from morphology
      • Primates are an Order of mammals
      • Hominoids share a number of phenotypic features with other anthropoids
      • Ancestral relationships of hominoids are difficult to resolve on morphological evidence
    • 7.2 Evidence from chromosomes
      • Human and great ape karyotypes look similar, but not identical
      • Molecular cytogenetic analyses support the picture from karyotype comparisons
    • 7.3 Evidence from molecules
      • Molecular data support a recent date of the ape–human divergence
      • Genetic data have resolved the gorilla–chimpanzee–human trichotomy
      • Sequence divergence is different among great apes across genetic loci
      • Great apes differ by gains and losses of genetic material
      • The DNA sequence divergence rates differ in hominoid lineages
    • 7.4 Genetic diversity among the great apes
      • How many genera, species, and subspecies are there?
      • Intraspecific diversity in great apes is greater than in humans
      • Signatures of lineage-specific selection can be detected in ape genomes
    • Summary
    • Questions
    • References
  • Chapter 8: What Genetic Changes Have Made us Human?
    • 8.1 Morphological and behavioral changes en route to homo sapiens
      • some human traits evolved early in hominin history
      • The human mind is unique
      • Only a few phenotypes are unique to modern humans
    • 8.2 Genetic uniqueness of humans and hominins
      • The sequence and structural differences between humans and other great apes can be cataloged
      • Humans have gained and lost a few genes compared with other great apes
      • Humans differ in the sequence of genes compared with other great apes
      • Humans differ from other apes in the expression levels of genes
      • Genome sequencing has revealed a small number of fixed genetic differences between humans and both Neanderthals and Denisovans
    • 8.3 Genetic basis of phenotypic differences between apes and humans
      • Mutations causing neoteny have contributed to the evolution of the human brain
      • The genetic basis for laterality and language remains unclear
      • What next?
    • Summary
    • Questions
    • References
  • Chapter 9: Origins of Modern Humans
    • 9.1 Evidence from fossils and morphology
      • Some fossils that may represent early hominins from 4–7 MYA are known from Africa
      • Fossils of australopithecines and their contemporaries are known from Africa
      • The genus Homo arose in Africa
      • The earliest anatomically modern human fossils are found in Africa
      • The morphology of current populations suggests an origin in Africa
    • 9.2 Evidence from archaeology and linguistics
      • Paleolithic archaeology has been studied extensively
      • Evidence from linguistics suggests an origin of language in Africa
    • 9.3 Hypotheses to explain the origin of modern humans
    • 9.4 Evidence from the genetics of present-day populations
      • Genetic diversity is highest in Africa
      • Genetic phylogenies mostly root in Africa
        • Mitochondrial DNA phylogeny
        • Y-chromosomal phylogeny
        • Other phylogenies
      • Insights can be obtained from demographic models
    • 9.5 Evidence from ancient dna
      • Ancient mtDNA sequences of Neanderthals and Denisovans are distinct from modern human variation
      • A Neanderthal draft genome sequence has been generated
      • A Denisovan genome sequence has been generated
    • Summary
    • Questions
    • References
• Section 4: How did humans colonize the world?
  • Chapter 10: The Distribution of Diversity
    • 10.1 Studying human diversity
      • The history and ethics of studying diversity are complex
        • Linnaeus’ classification of human diversity
        • Galton’s “Comparative worth of different races”
        • Modern attitudes to studying diversity
      • Who should be studied?
      • A few large-scale studies of human genetic variation have made major contributions to human evolutionary genetics
      • What is a population?
      • How many people should be analyzed?
    • 10.2 Apportionment of human diversity
      • The apportionment of diversity shows that most variation is found within populations
      • The apportionment of diversity can differ between segments of the genome
      • Patterns of diversity generally change gradually from place to place
      • The origin of an individual can be determined surprisingly precisely from their genotype
      • The distribution of rare variants differs from that of common variants
    • 10.3 The influence of selection on the apportionment of diversity
      • The distribution of levels of differentiation has been studied empirically
      • Low differentiation can result from balancing selection
      • High differentiation can result from directional selection
        • Positive selection at EDAR
    • Summary
    • Questions
    • References
  • Chapter 11: The colonization of the old world and australia
    • 11.1 A Colder and more variable environment 15–100 Kya
      • 100–70 Kya
      • Glacial maximum,70–55 Kya
      • 55–25 Kya
      • Last glacial maximum (LGM),23–14 Kya
      • Holocene, 12 KYA to present
    • 11.2 Fossil and archaeological evidence for two expansions of anatomically modern humans out of africa in the last ∼130 KY
      • Anatomically modern, behaviorally pre-modern humans expanded transiently into the Middle East ∼90–120 KYA
      • Modern human behavior first appeared in Africa after 100 KYA
      • Fully modern humans expanded into the Old World and Australia ∼50–70 KYA
        • Modern human fossils in Asia, Australia, and Europe
        • Initial colonization of Australia
        • Upper Paleolithic transition in Europe and Asia
    • 11.3 A single major migration out of africa 50–70 KYA
      • Populations outside Africa carry a shared subset of African genetic diversity with minor Neanderthal admixture
      • mtDNA and Y-chromosomal studies show the descent of all non-African lineages from a single ancestor for each who lived 55–75 KYA
    • 11.4 Early population divergence between australians and eurasians
    • Summary
    • Questions
    • References
  • Chapter 12: Agricultural expansions
    • 12.1 Defining agriculture
    • 12.2 The where, when, and why of agriculture
      • Where and when did agriculture develop?
      • Why did agriculture develop?
      • Which domesticates were chosen?
    • 12.3 Outcomes of agriculture
      • Agriculture had major impacts on demography and disease
        • Rapid demographic growth
        • Malnutrition and infectious disease
      • Agriculture led to major societal changes
    • 12.4 The farming–language co-dispersal hypothesis
      • Some language families have spread widely and rapidly
      • Linguistic dating and construction of proto-languages have been used to test the hypothesis
      • What are the genetic implications of language spreads?
    • 12.5 Out of the near east into europe
      • Nongenetic evidence provides dates for the European Neolithic
      • Different models of expansion give different expectations for genetic patterns
        • Models are oversimplifications of reality
      • Principal component analysis of classical genetic polymorphisms was influential
        • Interpreting synthetic maps
      • mtDNA evidence has been controversial, but ancient DNA data are transforming the field
        • Data from ancient mtDNA
      • Y-chromosomal data show strong clines in Europe
        • New developments for the Y chromosome
      • Biparentally inherited nuclear DNA has not yet contributed much, but important ancient DNA data are now emerging
        • Ancient DNA data
      • What developments will shape debate in the future?
    • 12.6 Out of tropical west africa into sub-equatorial africa
      • There is broad agreement on the background to African agricultural expansion
        • Rapid spread of farming economies
      • Bantu languages spread far and rapidly
      • Genetic evidence is broadly consistent, though ancient DNA data are lacking
        • Genomewide evidence
        • Evidence from mtDNA and the Y chromosome
    • 12.7 Genetic analysis of domesticated animals and plants
      • Selective regimes had a massive impact on phenotypes and genetic diversity
        • Key domestication changes in crops
        • Effects on crop genetic diversity
        • Phenotypic and genetic change in animals
      • How have the origins of domesticated plants been identified?
      • How have the origins of domesticated animals been identified?
        • Cattle domestication
    • Summary
    • Questions
    • References
  • Chapter 13: Into New-Found Lands
    • 13.1 Settlement of the new territories
      • Sea levels have changed since the out-of-Africa migration
      • What drives new settlement of uninhabited lands?
    • 13.2 Peopling of the americas
      • The changing environment has provided several opportunities for the peopling of the New World
      • Fossil and archaeological evidence provide a range of dates for the settlement of the New World
        • Fossils
        • Archaeological remains
        • Clovis and the Paleoindians
        • Pre-Clovis sites
        • Unresolved issues
    • Did the first settlers go extinct?
      • A three-migration hypothesis has been suggested on linguistic grounds
      • Genetic evidence has been used to test the single- and the three-wave migration scenarios
        • Mitochondrial DNA evidence
        • Interpretation of the mtDNA data
        • Evidence from the Y chromosome
        • Evidence from the autosomes
        • Conclusions from the genetic data
    • 13.3 Peopling of the pacific
      • Fossil and archaeological evidence suggest that Remote Oceania was settled more recently than Near Oceania
    • Two groups of languages are spoken in Oceania
      • Several models have been proposed to explain the spread of Austronesian speakers
      • Austronesian dispersal models have been tested with genetic evidence
        • Classical polymorphisms
        • Globin gene mutations
        • Mitochondrial DNA
        • The Y chromosome
        • Autosomal evidence
      • Evidence from other species has been used to test the Austronesian dispersal models
    • Summary
    • Questions
    • References
  • Chapter 14: What Happens when Populations Meet
    • 14.1 What is genetic admixture?
      • Admixture has distinct effects on genetic diversity
    • 14.2 The impact of admixture
      • Dierent sources of evidence can inform us about admixture
        • Consequences of admixture for language
        • Archaeological evidence for admixture
        • The biological impact of admixture
    • 14.3 Detecting admixture
      • Methods based on allele frequency can be used to detect admixture
      • Admixture proportions vary among individuals and populations
        • Calculating individual admixture levels using multiple loci
        • Calculating individual admixture levels using genomewide data
        • Calculating admixture levels from estimated ancestry components
        • Problems of measuring admixture
      • Natural selection can affect the admixture proportions of individual genes
    • 14.4 Local admixture and linkage disequilibrium
      • How does admixture generate linkage disequilibrium?
        • Admixture mapping
        • Admixture dating
    • 14.5 Sex-Biased admixture
      • What is sex-biased admixture?
        • Detecting sex-biased admixture
        • Sex-biased admixture resulting from directional mating
        • The effect of admixture on our genealogical ancestry
    • 14.6 Transnational isolates
      • Roma and Jews are examples of widely spread transnational isolates
        • European Roma
        • The Jews
    • Summary
    • Questions
    • References
• Section 5: How is an evolutionary perspective useful?
  • Chapter 15: Understanding the past, present, and future of phenotypic variation
    • 15.1 Normal and pathogenic variation in an evolutionary context
    • 15.2 Known variation in human phenotypes
      • What is known about human phenotypic variation?
        • Morphology and temperature adaptation
        • Facial features
        • Tooth morphology and cranial proportions
        • Behavioral differences
      • How do we uncover genotypes underlying phenotypes?
      • What have we discovered about genotypes underlying phenotypes?
    • 15.3 Skin pigmentation as an adaptation to ultraviolet light
      • Melanin is the most important pigment influencing skin color
      • Variable ultraviolet light exposure is an adaptive explanation for skin color variation
      • Short-term UVR exposure causes sunburn
      • Long-term UVR exposure causes cancers
      • UVR causes nutrient photodegradation in the skin
      • Several genes that affect human pigmentation are known
      • Genetic variation in human pigmentation genes is consistent with natural selection
      • Does sexual selection have a role in human phenotypic variation?
    • 15.4 Life at high altitude and adaptation to hypoxia
      • Natural selection has influenced the overproduction of red blood cells
      • High-altitude populations differ in their adaptation to altitude
    • 15.5 Variation in the sense of taste
      • Variation in tasting phenylthiocarbamide is mostly due to alleles of the TAS2R38 gene
      • There is extensive diversity of bitter taste receptors in humans
      • Sweet, umami, and sour tastes may show genetic polymorphism
    • 15.6 Adapting to a changing diet by digesting milk and starch
      • There are several adaptive hypotheses to explain lactase persistence
      • Lactase persistence is caused by SNPs within an enhancer of the lactase gene
      • Increased copy number of the amylase gene reflects an adaptation to a high-starch diet
    • 15.7 The future of human evolution
      • Have we stopped evolving?
      • Natural selection acts on modern humans
      • Can we predict the role of natural selection in the future?
        • Climate change
        • Dietary change
        • Infectious disease
      • What will be the effects of future demographic changes?
        • Increasing population size
        • Increased mobility
        • differential fertility
        • differential generation time
      • Will the mutation rate change?
    • Summary
    • Questions
    • References
  • Chapter 16: Evolutionary Insights into Simple Genetic Diseases
    • 16.1 Genetic disease and mutation–selection balance
      • Variation in the strength of purifying selection can affect incidence of genetic disease
      • Variation in the deleterious mutation rate can affect incidence of genetic disease
    • 16.2 Genetic drift, founder effects, and consanguinity
      • Jewish populations have a particular disease heritage
      • Finns have a disease heritage very distinct from other Europeans
      • Consanguinity can lead to increased rates of genetic disease
    • 16.3 Evolutionary causes of genomic disorders
      • Segmental duplications allow genomic rearrangements with disease consequences
      • Duplications accumulated in ancestral primates
    • 16.4 Genetic diseases and selection by malaria
      • Sickle-cell anemia is frequent in certain populations due to balancing selection
      • α-Thalassemias are frequent in certain populations due to balancing selection
      • Glucose-6-phosphate dehydrogenase deficiency alleles are maintained at high frequency in malaria-endemic populations
      • What can these examples tell us about natural selection?
    • Summary
    • Questions
    • References
  • Chapter 17: Evolution and Complex Diseases
    • 17.1 Defining complex disease
      • The genetic contribution to variation in disease risk varies between diseases
      • Infectious diseases are complex diseases
    • 17.2 The global distribution of complex diseases
      • Is diabetes a consequence of a post-agricultural change in diet?
        • The drifty gene hypothesis
        • Evidence from genomewide studies
        • The thrifty phenotype hypothesis
    • 17.3 Identifying alleles involved in complex disease
      • Genetic association studies are more powerful than linkage studies for detecting small genetic effects
      • Candidate gene association studies have not generally been successful in identifying susceptibility alleles for complex disease
      • Genomewide association studies can reliably identify susceptibility alleles to complex disease
      • GWAS data have been used for evolutionary genetic analysis
    • 17.4 What complex disease alleles do we expect to find in the population?
      • Negative selection acts on disease susceptibility alleles
      • Positive selection acts on disease resistance alleles
        • Severe sepsis and CASP12
        • Malaria and the Duffy antigen
        • HIV-1 and CCR5Δ32
      • Unexpectedly, some disease susceptibility alleles with large effects are observed at high frequency
        • Susceptibility to kidney disease, APOL1, and resistance to sleeping sickness
        • Implications for other GWAS results
    • 17.5 Genetic influence on variable response to drugs
      • Population differences in drug-response genes exist, but are not well understood
    • Summary
    • Questions
    • References
  • Chapter 18: Identity and identification
    • 18.1 Individual Identification
      • The first DNA fingerprinting and profiling methods relied on mini satellites
      • PCR-based microsatellite profiling superseded minisatellite analysis
      • How do we interpret matching DNA profiles?
        • Complications from related individuals, and DNA mixtures
      • Large forensic identification databases are powerful tools in crime-fighting
        • Controversial aspects of identification databases
      • The Y chromosome and mtDNA are useful in specialized cases
        • Y chromosomes in individual identification
        • mtDNA in individual identification
    • 18.2 What dna can tell us about john or jane doe
      • DNA-based sex testing is widely used and generally reliable
        • Sex reversal
        • Deletions of the AMELY locus in normal males
      • Some other phenotypic characteristics are predictable from DNA
      • Reliability of predicting population of origin depends on what DNA variants are analyzed
      • Prediction from forensic microsatellite multiplexes
        • Prediction from other systems
        • The problem of admixed populations
    • 18.3 Deducing family and genealogical relationships
    • The probability of paternity can be estimated confidently
      • Other aspects of kinship analysis
    • The Y chromosome and mtDNA are useful in genealogical studies
      • The Thomas Jefferson paternity case
        • DNA-based identification of the Romanovs
      • Y-chromosomal DNA has been used to trace modern diasporas
      • Y-chromosomal haplotypes tend to correlate with patrilineal surnames
    • 18.4 The personal genomics revolution
      • The first personal genetic analysis involved the Y chromosome and mtDNA
      • Personal genomewide SNP analysis is used for ancestry and health testing
      • Personal genome sequencing provides the ultimate resolution
    • Personal genomics offers both promise and problems
    • Summary
    • Questions
    • References
• Appendix
• Glossary
• Index

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