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An introduction to human molecular genetics [[electronic resource] ] : mechanisms of inherited diseases / / Jack J. Pasternak
| An introduction to human molecular genetics [[electronic resource] ] : mechanisms of inherited diseases / / Jack J. Pasternak |
| Autore | Pasternak Jack J |
| Edizione | [2nd ed.] |
| Pubbl/distr/stampa | Hoboken, N.J., : Wiley-Liss, c2005 |
| Descrizione fisica | 1 online resource (660 p.) |
| Disciplina | 616/.042 |
| Soggetto topico |
Human molecular genetics
Genetic disorders |
| ISBN |
1-280-27586-3
9786610275861 0-470-35786-X 0-471-71917-X 0-471-71918-8 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
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 ChromosomesChromosome 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 InheritanceX-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 MutationsNucleotide 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 LibrariesChromosome 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 |
| Record Nr. | UNINA-9910144639703321 |
Pasternak Jack J
|
||
| Hoboken, N.J., : Wiley-Liss, c2005 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
An introduction to human molecular genetics : mechanisms of inherited diseases / / Jack J. Pasternak
| An introduction to human molecular genetics : mechanisms of inherited diseases / / Jack J. Pasternak |
| Autore | Pasternak Jack J |
| Edizione | [2nd ed.] |
| Pubbl/distr/stampa | Hoboken, N.J., : Wiley-Liss, c2005 |
| Descrizione fisica | 1 online resource (660 p.) |
| Disciplina | 616/.042 |
| Soggetto topico |
Human molecular genetics
Genetic disorders |
| ISBN |
9786610275861
9781280275869 1280275863 9780470357866 047035786X 9780471719175 047171917X 9780471719182 0471719188 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
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 ChromosomesChromosome 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 InheritanceX-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 MutationsNucleotide 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 LibrariesChromosome 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 |
| Record Nr. | UNINA-9910813517203321 |
|
Pasternak Jack J
|
||
| Hoboken, N.J., : Wiley-Liss, c2005 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||