AN INTRODUCTION TO Human Molecular Genetics -- Contents -- Preface -- Preface to the First Edition -- chapter 1 Understanding Human Disease -- Human Genetic Disease -- Human Genetics from 1900 to 1957 -- Eugenics: Genetics Misinterpreted -- The Molecularization of Genetics -- Genes and Phenotypes -- from the human genetics files OMIM: An Important Online Source of Information About Human Genetic Disorders -- Key Terms -- Summary -- References -- Review Questions -- chapter 2 The Genetic System: Chromosomes -- Human Chromosomes -- Maintaining the Chromosome Number -- Cell Division Cycle: The Mitotic Process -- The Meiotic Process -- Characterizing Human Chromosomes -- Chromosome Abnormalities -- Whole Chromosome Changes: Aneuploidy -- Chromosome Structural Changes -- from the human genetics files Determining the Phases of the Cell Cycle -- Key Terms -- Summary -- References -- Review Questions -- chapter 3 The Genetic System: Mendel's Laws of Inheritance and Genetic Linkage -- Dominance, Recessiveness, and Segregation -- Independent Assortment -- Genetic Linkage -- Constructing Genetic Maps -- Three-Point Cross -- Chi-Square Distribution: Testing for Significance -- Multiple Alleles -- Human Genetics -- Autosomal Dominant Inheritance -- Autosomal Recessive Inheritance -- X-Linked Inheritance -- Using Pedigrees to Study Human Genetic Disorders -- from the human genetics files Calculating Mendelian Frequencies -- Detection and Estimation of Genetic Linkage in Humans -- The Logarithm of the Likelihood Ratio Method of Linkage Analysis: LOD Score -- Key Terms -- Summary -- References -- Review Questions -- chapter 4 The Molecular Biology of the Gene -- Properties of Genetic Material -- Structure of DNA -- DNA Replication -- Decoding Genetic Information: RNA and Protein -- Translation -- Regulation of mRNA Transcription.

from the human genetics files Hemoglobinopathies and Thalassemias: An Abundance of Mutations -- Nucleotide Sequence Alteration: Mutation -- Mutations of Structural Genes -- Nomenclature for Mutations -- Dominant Mutations and Genetic Disorders -- Key Terms -- Summary -- References -- Review Questions -- chapter 5 Recombinant DNA Technology -- Restriction Endonucleases -- Cloning Vectors -- Plasmid Cloning Vector pUC19 -- Screening DNA Constructs by DNA Hybridization -- In Situ Hybridization -- Chemical Synthesis of DNA -- Sequencing DNA -- Polymerase Chain Reaction -- Human-Rodent Somatic Cell Hybrids -- Human DNA Libraries -- Genomic Libraries -- Chromosome DNA Libraries -- from the human genetics files Multicolor Karyotyping: Coloring Chromosomes -- Region-Specific Chromosome Libraries -- Constructing a cDNA Library -- Key Terms -- Summary -- References -- Review Questions -- chapter 6 Genetic and Physical Mapping of the Human Genome -- Genetic Mapping of Human Chromosomes -- Genetic Polymorphism -- Restriction Fragment Length Polymorphism -- Short Tandem Repeat Polymorphism -- Mapping of a Genetic Disease Locus to a Chromosome Location -- Multilocus Mapping of Human Chromosomes -- Inserting a Disease Gene into a Linkage Map -- Homozygosity Mapping -- Linkage Disequilibrium Mapping -- Radiation Hybrid Mapping -- Genotyping Single-Nucleotide Polymorphisms -- Physical Mapping of the Human Genome -- Assembling Contigs from BAC Libraries -- from the human genetics files Comparative Genetic Maps -- Integration of Cytogenetic, Genetic, and Physical Maps -- Key Terms -- Summary -- References -- Review Questions -- chapter 7 Discovering Human Disease Genes -- Cloning Human Disease Genes -- Functional/Candidate Gene Cloning -- Positional-Candidate Gene Cloning -- Detection of Mutations in Human Genes -- Single-Strand Conformation Polymorphism Analysis.

Denaturing Gradient Gel Electrophoresis -- Heteroduplex Analysis -- from the human genetics files Rapid Detection of Unknown Mutations: Capillary Electrophoresis -- Chemical Mismatch Cleavage -- Direct DNA Sequencing -- Protein Truncation Test -- Key Terms -- Summary -- References -- Review Questions -- chapter 8 Bioinformatics: Genomics, Functional Genomics, and Proteomics -- Similarity Search of a DNA Database -- Functional Genomics -- DNA Microarray Technology -- Serial Analysis of Gene Expression -- Proteomics -- Separation and Identification of Proteins -- Protein Expression Profiling -- Protein-Protein Interaction Mapping -- from the human genetics files How Many Genes Do We Have? -- Key Terms -- Summary -- References -- Review Questions -- chapter 9 Human Population Genetics -- Alleles, Genotypes, and Hardy-Weinberg Equilibrium -- Hardy-Weinberg Equilibrium with X-Linked Genes -- Hardy-Weinberg Equilibrium with Two Loci -- Processes That Alter Allele and Genotype Frequencies in Populations -- Population Size -- Genetic Structure of Isolated Human Populations -- Founder Effect -- Migration -- Mating Systems -- Assortative Mating -- Inbreeding -- Effect of Inbreeding on Populations -- Mutation -- Fitness and Selection -- Directional Selection -- Balancing Selection -- Disruptive Selection -- Mutation, Selection, and Founder Effect: A Case Study -- from the human genetics files Dysgenics: Fact or Fiction -- from the human genetics files Coalescence -- Neutral Theory -- Testing for Selection -- Wright's F(ST) Statistic -- from the human genetics files Using DNA Polymorphisms to Infer Human History -- Key Terms -- Summary -- References -- Review Questions -- chapter 10 Molecular Genetics of Complex Disorders -- Phenotypic Variation of Monogenic Disorders -- Oculocutaneous Albinism Type 1 -- Glucose-6-Phosphate Dehydrogenase Deficiency.

Cystic Fibrosis -- Oligogenic Disorders -- Autosomal Recessive Nonsyndromic Deafness -- Bardet-Biedl Syndrome -- Polygenic Inheritance -- Familial Risk Ratio -- Twin Studies -- Locating Quantitative Trait Loci -- Case-Control Association Studies -- from the human genetics files Genetics of Human Intelligence -- Genome Scans -- Transmission/Disequilibrium Test -- Affected Sib Pair Linkage Analysis -- Key Terms -- Summary -- References -- Review Questions -- chapter 11 Genomic Imprinting: An Epigenetic Modification -- Parent-of-Origin Effect -- Gene Silencing -- Genomic Imprinting and Human Disease -- Prader-Willi Syndrome -- Angelman Syndrome -- from the human genetics files X-Chromosome Inactivation -- Beckwith-Wiedemann Syndrome -- Key Terms -- Summary -- References -- Review Questions -- chapter 12 Molecular Genetics of Mitochondrial Disorders -- Mitochondria and Oxidative Phosphorylation -- Mitochondrial Genetics -- Mitochondrial Disorders -- Myoclonus Epilepsy and Ragged Red Fibers -- Mitochondrial Encephalomyopathy with Lactic Acidosis and Strokelike Episodes -- Leber Hereditary Optic Neuropathy -- Neuropathy, Ataxia, and Retinitis Pigmentosa -- Kearns-Sayre Syndrome -- Nuclear-Encoded Mitochondrial Disorders -- Mitochondrial Protein Importation Defects -- Substrate Transport Defects -- Substrate Utilization Defects -- Iron Transport Defect -- Electron Transport Chain Defects -- from the human genetics files Revelations From the Grave: Using Mitochondrial DNA Analysis to Resolve Historical Mysteries -- Mitochondrial DNA Defects -- Key Terms -- Summary -- References -- Review Questions -- chapter 13 Molecular Genetics of Muscle Disorders -- Structure of Skeletal Muscle -- Dystrophin and Associated Muscle Proteins -- Cardiac and Smooth Muscle -- Studying Inherited Muscle Disorders -- Skeletal Muscle Disorders -- Duchenne Muscular Dystrophy.

Limb-Girdle Muscular Dystrophy -- Congenital Muscular Dystrophy -- Facioscapulohumeral Muscular Dystrophy -- Cardiac Muscle Disorders -- Dilated Cardiomyopathy -- from the human genetics files Discovering the DMD Gene -- Hypertrophic Cardiomyopathy -- Key Terms -- Summary -- References -- Review Questions -- chapter 14 Molecular Genetics of Neurological Disorders -- Neurons -- Nonneuronal Cells of the Nervous System -- Resting Membrane Potential -- Initiation, Propagation, and Synaptic Transmission of a Nerve Impulse -- Parts of the Brain -- Neuronal Channelopathies -- Alzheimer Disease -- Biochemistry of Senile Plaques and Neurofibrillary Tangles -- Genetics of Alzheimer Disease -- Mutations of the Amyloid Precursor Protein Gene -- Mutations in the Presenilin Genes -- Genetic Risk Factor for Alzheimer Disease -- Huntington Disease and Other Trinucleotide Repeat Expansion Diseases -- Amyotrophic Lateral Sclerosis -- Charcot-Marie-Tooth Disease -- Inherited Prion Diseases -- from the human genetics files Genetically Engineered Animal Models for Studying Inherited Human Disorders -- Schizophrenia -- Key Terms -- Summary -- References -- Review Questions -- chapter 15 Molecular Genetics of the Eye -- Human Visual System -- Structure of the Eye -- Phototransduction: Conversion of Radiant Energy into Nerve Impulses -- Studying the Molecular Basis of Inherited Disorders of the Human Eye -- Genetic Disorders of the Human Eye -- Corneal Dystrophies -- Glaucoma -- Aniridia -- Cataracts -- Retinitis Pigmentosa -- Congenital Stationary Night Blindness -- Choroideremia -- Color Vision Defects -- from the human genetics files Searching for the Genetic Basis of Myopia -- Isolation of Human Rhodopsin and Color Opsin Genes -- Molecular Genetics of Red and Green Color Vision Defects -- Blue Cone Monochromacy -- Blue Color Vision Defects -- Rod Monochromacy.

Key Terms.