Introduction to genetic analysis / Anthony J.F. Griffiths ... [and others].

Format:

Book

Contributor:

Griffiths, Anthony J. F.

Alumni and Friends Memorial Book Fund.

Language:

English

Subjects (All):

Genetics.

Genetic Techniques.

Medical Subjects:

Genetics.

Genetic Techniques.

Physical Description:

xxiii, 838 pages : illustrations (chiefly color) ; 29 cm

Edition:

Ninth edition.

Place of Publication:

New York : W.H. Freeman and Co., [2008]

Contents:

Transmission Genetics

Chapter 1 The Genetic Approach to Biology

1.1 Genetics and the Questions of Biology

1.2 The Molecular Basis of Genetic Information

Specifying the amino acid sequence of a protein

Gene regulation

1.3 The Program of Genetic Investigation

Starting with variation: Forward genetics

Starting with DNA: Reverse genetics

1.4 Methodologies Used in Genetics

Detecting specific molecules of DNA, RNA, and protein

1.5 Model Organisms

Lessons from the first model organisms

The need for a variety of model organisms

1.6 Genes, the Environment, and the Organism

Model I: Genetic determination

Model II: Environmental determination

Model III: Genotype-environment interaction

The use of genotype and phenotype

Developmental noise

Three levels of development

Chapter 2 Single-Gene Inheritance

2.1 Genes and Chromosomes

2.2 Single-Gene Inheritance Patterns

Mendel's law of equal segregation

2.3 The Chromosomal Basis of Single-Gene Inheritance Patterns

Single-gene inheritance in haploids

The molecular basis of single-gene segregation and expression

2.4 Identifying Genes by Observing Segregation Ratios

Discovering a gene active in the development of flower color

Discovering a gene for wing development

Discovering a gene for spore production

The results of gene discovery

Forward genetics

Predicting progeny proportions or parental genotypes by applying the principles of single-gene influence

2.5 Sex-Linked Single-Gene Inheritance Patterns

Sex-linked patterns of inheritance

X-linked inheritance

2.6 Human Pedigree Analysis

Autosomal recessive disorders

Autosomal dominant disorders

Autosomal polymorphisms

X-linked recessive disorders

X-linked dominant disorders

Y-linked inheritance

Calculating risks in pedigree analysis

Chapter 3 Independent Assortment of Genes

3.1 Mendel's Law of Independent Assortment

3.2 Working with Independent Assortment

Predicting progeny ratios

Using the chi-square test on monohybrid and dihybrid ratios

Synthesizing pure lines

Hybrid vigor

3.3 The Chromosomal Basis of Independent Assortment

Independent assortment in diploid organisms

Independent assortment in haploid organisms

Independent assortment of combinations of autosomal and X-linked genes

Recombination

3.4 Polygenic Inheritance

3.5 Organelle Genes: Inheritance Independent of the Nucleus

Patterns of inheritance in organelles

Cytoplasmic segregation

Cytoplasmic mutations in humans

Chapter 4 Mapping Eukaryote Chromosomes by Recombination

4.1 Diagnostics of Linkage

Using recombinant frequency to recognize linkage

How crossovers produce recombinants for linked genes

Linkage symbolism and terminology

Evidence that crossing over is a breakage-and-rejoining process

Evidence that crossing over takes place at the four-chromatid stage

Multiple crossovers can include more than two chromatids

4.2 Mapping by Recombinant Frequency

Map units

Three point testcross

Deducing gene order by inspection

Interference

Using ratios as diagnostics

4.3 Mapping with Molecular Markers

Single nucleotide polymorphisms

Mapping by using SNP haplotypes

Simple sequence length polymorphisms

4.4 Centromere Mapping with Linear Tetrads

4.5 Using the Chi-Square Test for Testing Linkage Analysis

4.6 Using Lod Scores to Assess Linkage in Human Pedigrees

4.7 Accounting for Unseen Multiple Crossovers

A mapping function

The Perkins formula

4.8 Using Recombination-Based Maps in Conjunction with Physical Maps

Chapter 5 The Genetics of Bacteria and their Viruses

5.1 Working with Microorganisms

5.2 Bacterial Conjugation

Discovery of conjugation

Discovery of the fertility factor (F)

Hfr strains

Mapping of bacterial chromosomes

F plasmids that carry genomic fragments

R plasmids

5.3 Bacterial Transformation

Chromosome mapping using transformation

5.4 Bacteriophage Genetics

Infection of bacteria by phages

Mapping phage chromosomes by using phage crosses

5.5 Transduction

Discovery of transduction

Generalized transduction

Specialized transduction

Mechanism of specialized transduction

5.6 Physical Maps and Linkage Maps Compared

From Dna to Phenotype

Chapter 6 Gene Interaction

6.1 Interactions Between the Alleles of a Single Gene: Variations on Dominance

Complete dominance and recessiveness

Incomplete dominance

Codominance

Recessive lethal alleles

6.2 Interaction of Genes in Pathways

Biosynthetic pathways in Neurospora

Gene interaction in other types of pathways

6.3 Inferring Gene Interactions

Defining the set of genes by using the complementation test

Analyzing double mutants of random mutations

6.4 Penetrance and Expressivity

Chapter 7 DNA: Structure and Replication

7.1 DNA: The Genetic Material

Discovery of transformation

Hershey-Chase experiment

7.2 The DNA Structure

DNA structure before Watson and Crick

The double helix

7.3 Semiconservative Replication

Meselson-Stahl experiment

The replication fork

DNA polymerases

7.4 Overview of DNA Replication

7.5 The Replisome: A Remarkable Replication Machine

Unwinding the double helix

Assembling the replisome: replication initiation

7.6 Replication in Eukaryotic Organisms

The eukaryotic replisome

Eukaryotic origins of replication

DNA replication and the yeast cell cycle

Replication origins in higher eukaryotes

7.7 Telomeres and Telomerase: Replication Termination

Telomeres, cancer, and aging

Chapter 8 RNA: Transcription and Processing

8.1 RNA

Early experiments suggest an RNA intermediate

Properties of RNA

Classes of RNA

8.2 Transcription

Overview: DNA as transcription template

Stages of transcription

8.3 Transcription in eukaryotes

Transcription initiation in eukaryotes

Elongation, termination, and pre-mRNA processing in eukaryotes

8.4 Functional RNAs

Small nuclear RNAs (snRNAs): The mechanism of exon splicing

Self-splicing introns and the RNA world

Small interfering RNAs (siRNAs)

Chapter 9 Proteins and their Synthesis

9.1 Protein Structure

9.2 Colinearity of gene and protein

9.3 The Genetic Code

Overlapping versus nonoverlapping codes

Number of letters in the codon

Use of suppressors to demonstrate a triplet code

Degeneracy of the genetic code

Cracking the code

Stop codons

9.4 TRNA: The Adapter

Codon translation by tRNA

Degeneracy revisited

9.5 Ribosomes

Ribosome features

Translation, initiation, elongation, and termination

Nonsense suppressor mutations

9.6 The Proteome

Alternative splicing generates protein isoforms

Posttranslational events

Chapter 10 Regulation of Gene Expression in Bacteria and their Viruses

10.1 Gene Regulation

The basics of prokaryotic transcriptional regulation: Genetic switches

A first look at the lac regulatory circuit

10.2 Discovery of the lac System: Negative Control

Genes controlled together

Genetic evidence for the operator and repressor

Genetic evidence for allostery

Genetic analysis of the lac promoter

Molecular characterization of the lac repressor and the lac operator Polar mutations

10.3 Catabolic Repression of the lac Operon: Positive Control

The basics of catabolite repression of the lac operon: Choosing the best sugar to metabolize

The structure of target DNA sites

A summary of the lac operon

10.4 Dual Positive and Negative Control: The Arabinose Operon

10.5 Metabolic Pathways and Additional Levels of Regulation: Attenuation

Transcription of the trp operon is regulated at two steps

10.6 Bacteriophage Life Cycles: More Regulators, Complex Operons

Molecular anatomy of the genetic switch

Sequence-specific binding of regulatory proteins to DNA

10.7 Alternative Sigma Factors Regulate Large Sets of Genes

Chapter 11 Regulation of Gene Expression in Eukaryotes

11.1 Transcriptional Regulation in Eukaryotes: An Overview

11.2 Lessons from Yeast: the GAL System

Gal4 regulates

multiple genes through upstream activation sequences

The Gal4 protein has separable DNA-binding and activation domains

Gal4 activity is physiologically regulated

Gal4 functions in most eukaryotes

Activators recruit the transcriptional machinery

11.3 Dynamic Chromatin and Eukaryotic Gene Regulation

Chromatin-remodeling proteins and gene activation

Histones and chromatin remodeling

11.4 Enhancers: Cooperative Interactions, Combinatorial Control, and Chromatin Remodeling

The b-interferon enhanceosome

The control of yeast mating type: Combinatorial interactions

DNA-binding proteins combinatorially regulate the expression of cell-type-specific genes

Enhancer-blocking insulators

11.5 Genomic Imprinting

But what about Dolly and other cloned mammals?

11.6 Chromatin Domains and Their Inheritance

Mating-type switching and gene silencing

Heterochromatin and euchromatin compared

Position-effect variegation in Drosophila reveals genomic neighborhoods

Genetic analysis of PEV reveals proteins necessary for heterochromatin formation

Silencing an entire chromosome: X-chromosome inactivation

The inheritance of epigenetic marks and chromatin structure

Chapter 12 The Genetic Control of Development

12.1 The Genetic Approach to Development

12.2 The Genetic Toolkit for Drosophila Development

Classification of genes by developmental function

Homeotic genes and segmental identity

Organization and expression of Hox genes

The homeobox

Clusters of Hox genes control development in most animals

12.3 Defining the Entire Toolkit

The anteroposterior and dorsoventral axes

Expression of toolkit genes

12.4 Spatial Regulation of Gene Expression in Development

Maternal gradients and gene activation

Drawing stripes: Integration of gap-protein inputs

Making segments different: Integration of Hox inputs

12.5 Posttranscriptional Regulation of Gene Expression in Development

RNA splicing and sex determination in Drosophila

Regulation of mRNA translation and cell lineage in C. elegans

Translational control in the early embryo

MiRNA control of developmental timing in C. elegans and other species

12.6 The Many Roles of Individual Toolkit Genes

From flies to fingers, feathers, and floor plates

12.7 Development and Disease

Polydactyly

Holoprosencephaly

Cancer as a developmental disease

Chapter 13 Genomes and Genomics

13.1 The Genomics Revolution

13.2 Creating the Sequence Map of a Genome

Turning sequence reads into a sequence map

Establishing a genomic library of clones

Sequencing a simple genome by using the whole-genome shotgun approach

Using the whole-genome shotgun approach to create a draft sequence of a complex genome

Using the ordered-clone approach to sequence a complex genome

Filling sequence gaps

13.3 Bioinformatics: Meaning from Genomic Sequence

The nature of the information content of DNA

Deducing the protein-encoding genes from genomic sequence

13.4 The Structure of the Human Genome

13.5 Comparative Genomics

Of mice and humans

Comparative genomics of chimpanzees and humans

Conserved and ultraconserved noncoding elements

Comparative genomics of non-pathogenic and pathogenic E. coli

13.6 Functional Genomics and Reverse Genetics

Ome, Sweet Ome

Reverse genetics

Mutation, Variation, and Evolution

Chapter 14 The Dynamic Genome

14.1 Discovery of transposable elements in maize

McClintock's experiments: the Ds element

Autonomous and nonautomous elements

Transposable elements: only in maize?

14.2 Transposable elements in bacteria

Bacterial insertion sequences

Prokaryotic transposons

Mechanism of transposition

14.3 Transposable elements in eukaryotes

Class I: retrotransposons

DNA transposons

Utility of DNA transposons for gene discovery

14.4 The dynamic genome: more transposable elements than ever imagined

Large genomes are largely transposable elements

Transposable elements in the human genome

The grasses: LTR retrotransposons thrive in large genomes

Safe havens

Chapter 15 Mutation, Repair, and Recombination

15.1 Phenotypic consequences of DNA alterations

Types of point mutation

The molecular consequences of point mutations in a coding region

The molecular consequences of point mutations in a noncoding region

15.2 The Molecular Basis of Spontaneous Mutations

Luria and Delbrück fluctuation test

Mechanisms of spontaneous mutations

Spontaneous mutations in humans - trinucleotide repeat diseases

15.3 The Molecular Basis of Induced Mutations

Mechanisms of mutagenesis

The Ames test: Evaluating mutagens in our environment

15.4 Cancer: An Important Phenotypic Consequence of Mutations

How cancer cells differ from normal cells

Mutations in cancer cells

15.5 Biological Repair Mechanisms

Direct reversal of damaged DNA

Homology-dependent repair systems

Postreplication repair: mismatch repair

Error-prone repair: Translesion DNA synthesis

Repair of double-strand breaks

15.6 The Mechanism of Meiotic Crossing-Over

Programmed double-strand breaks initiate meiotic recombination

Genetic analysis of tetrads provides clues to the mechanism of recombination

The double-strand break model for meiotic recombination

Chapter 16 Large-Scale Chromosomal Changes

16.1 Changes in Chromosome Number

Aberrant euploidy

Aneuploidy

The concept of gene balance

16.2 Changes in Chromosome Structure

Deletions

Duplications

Inversions

Reciprocal translocations

Robertsonian translocations

Applications of inversions and translocations

Rearrangements and cancer

Identifying chromosome mutations by genomics

16.3 Overall Incidence of Human Chromosome Mutations

Chapter 17 Population Genetics

17.1 Variation and Its Modulation

Observations of variation

Protein polymorphisms

DNA structure and sequence polymorphism

17.2 Effect of Sexual Reproduction on Variation

Meiotic segregation and genetic equilibrium

Heterozygosity

Random mating

Inbreeding and assertive mating

17.3 Sources of Variation

Variation from mutation

Variation from recombination

Variation from migration

17.4 Selection

Two forms of selection

Measuring fitness differences

How selection works

Rate of change in gene frequency

17.5 Balanced Polymorphism

Overdominance and underdominance

Balance between mutation and selection

17.6 Random Events

Chapter 18 Quantitative Genetics

18.1 Genes and Quantitative Traits

18.2 Some Basic Statistical Notions

Statistical distributions

Statistical measures

18.3 Genotypes and Phenotypic Distribution

The critical difference between quantitative and Mendelian traits

Gene number and quantitative traits

18.4 Norm of Reaction and Phenotypic Distribution

18.5 Determining Norms of Reaction

Domesticated plants and animals

Studies of natural populations

Results of norm-of-reaction studies

18.6 The Heritability of a Quantitative Character

Familiarity and heritability

Phenotypic similarity between relatives

18.7 Quantifying Heritability

Methods of estimating H2

The meaning of H2

Narrow heritability

Estimating the components of genetic variance

Artificial selection

The use of H2 in breeding

18.8 Locating Genes

Marker-gene segregation

Quantitative linkage analysis

Chapter 19 Evolutionary Genetics

19.1 Darwinian Evolution

19.2 A Synthesis of Forces: Variation and Divergence of Populations

19.3 Multiple Adaptive Peaks

Exploration of adaptive peaks

19.4 Genetic Variation

Heritability of variation

Variation within and between populations

19.5 Mutation and Molecular Evolution

The signature of purifying selection on DNA

19.6 Relating Genetic to Functional Change: Protein Evolution

The signature of positive selection on DNA sequences

Morphological evolution

Gene inactivation

19.7 Regulatory Evolution

Regulatory evolution in humans

19.8 The Origin of New Genes

Polyploidy

Imported DNA

19.9 Genetic Evidence of Common Ancestry in Evolution

Comparing the proteomes among distant species

Comparing the proteomes among near neighbors: Human-mouse comparative genomics

19.10 The Process of Speciation

Genetics of species isolation

Techniques

Chapter 20 Gene Isolation and Manipulation

20.1 Mutant screens

20.2 Generating Recombinant Molecules

Type of donor DNA

Cutting genomic DNA

Attaching vector DNA and vector DNA

Amplification inside a bacterial cell

Entry of

recombinant molecules into the bacterial cell

Recovery of amplified recombinant molecules

Making genomic and cDNA libraries

Finding a specific clone of interest

Determining the base sequence of a DNA segment

20.3 DNA Amplification in Vitro: the Polymerase Chain Reaction

20.4 Zeroing in on the Gene for Alkaptonuria: Another Case Study

20.5 Detecting Human Disease Alleles: Molecular Genetic Diagnostics

Diagnosing mutations on the basis of restriction-site differences

Diagnosing mutations by probe hybridization

Diagnosing with PCR tests

20.6 Genetic Engineering

Genetic engineering in Saccharomyces cerevisiae

Genetic engineering in plants

Genetic engineering in animals

Human gene therapy

A Brief Guide to Model Organisms.

Notes:

Includes index.

Local Notes:

Acquired for the Penn Libraries with assistance from the Alumni and Friends Memorial Book Fund.

ISBN:

0716768879

9780716768876

OCLC:

126886510