Ebook: An introduction to human molecular genetics : mechanisms of inherited diseases

A practical, easily accessible guide for bench-top chemists, this book focuses on accurately applying computational chemistry techniques to everyday chemistry problems.Provides nonmathematical explanations of advanced topics in computational chemistry.Focuses on when and how to apply different computational techniques.Addresses computational chemistry connections to biochemical systems and polymers.Provides a prioritized list of methods for attacking difficult computational chemistry problems, and compares advantages and disadvantages of various approximation techniques.Describes how the choice of methods of software affects requirements for computer memory and processing time An Introduction to Human Molecular GeneticsSecond EditionJack J. PasternakThe Second Edition of this internationally acclaimed text expands its coverage of the molecular genetics of inherited human diseases with the latest research findings and discoveries. Cover 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 Id