LEADER 05391nam 22006734a 450 001 9910144639703321 005 20210901115600.0 010 $a1-280-27586-3 010 $a9786610275861 010 $a0-470-35786-X 010 $a0-471-71917-X 010 $a0-471-71918-8 035 $a(CKB)1000000000226368 035 $a(EBL)231718 035 $a(OCoLC)559956270 035 $a(SSID)ssj0000182635 035 $a(PQKBManifestationID)11181837 035 $a(PQKBTitleCode)TC0000182635 035 $a(PQKBWorkID)10173036 035 $a(PQKB)10546335 035 $a(MiAaPQ)EBC231718 035 $a(Au-PeEL)EBL231718 035 $a(CaPaEBR)ebr10113938 035 $a(CaONFJC)MIL27586 035 $a(OCoLC)437146253 035 $a(PPN)190550724 035 $a(EXLCZ)991000000000226368 100 $a20050622d2005 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $2rdacontent 182 $2rdamedia 183 $2rdacarrier 200 13$aAn introduction to human molecular genetics$b[electronic resource] $emechanisms of inherited diseases /$fJack J. Pasternak 205 $a2nd ed. 210 $aHoboken, N.J. $cWiley-Liss$dc2005 215 $a1 online resource (660 p.) 300 $aDescription based upon print version of record. 311 $a0-471-47426-6 327 $aAN 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 327 $aCharacterizing 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 327 $aAutosomal 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 327 $afrom 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 327 $aGenomic 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 327 $aLinkage Disequilibrium Mapping 330 $aAn 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 606 $aHuman molecular genetics 606 $aGenetic disorders 615 0$aHuman molecular genetics. 615 0$aGenetic disorders. 676 $a616/.042 700 $aPasternak$b Jack J$062652 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910144639703321 996 $aAn introduction to human molecular genetics$92028885 997 $aUNINA