An introduction to human molecular genetics : mechanisms of inherited diseases / Jack J. Pasternak.

Format:

Book

Author/Creator:

Pasternak, Jack J.

Language:

English

Subjects (All):

Human molecular genetics.

Genetic disorders.

Physical Description:

1 online resource (660 p.)

Edition:

2nd ed.

Place of Publication:

Hoboken, N.J. : Wiley-Liss, c2005.

Language Note:

English

Summary:

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. Using a unique, systems-based approach, the text offers readers a thorough explanation of the gene discovery process and how defective genes are linked to inherited disease states in major organ and tissue systems. All the latest developments in functional genomics, proteomics, and microarray technology have been thoroughly inco

Contents:

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

Notes:

Description based upon print version of record.

ISBN:

9786610275861

9781280275869

1280275863

9780470357866

047035786X

9780471719175

047171917X

9780471719182

0471719188

OCLC:

559956270