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    Human Molecular Genetics

    Human Molecular Genetics

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    • Format
    • Bog, paperback
    • Engelsk

    Beskrivelse

    Human Molecular Genetics has been carefully crafted over successive editions to provide an authoritative introduction to the molecular aspects of human genetics, genomics and cell biology.

    Maintaining the features that have made previous editions so popular, this fifth edition has been completely updated in line with the latest developments in the field. Older technologies such as cloning and hybridization have been merged and summarized, coverage of newer DNA sequencing technologies has been expanded, and powerful new gene editing and single-cell genomics technologies have been added. The coverage of GWAS, functional genomics, stem cells, and disease modeling has been expanded. Greater focus is given to inheritance and variation in the context of populations and on the role of epigenetics in gene regulation.

    Key features:



    Fully integrated approach to the molecular aspects of human genetics, genomics, and cell biology

    Accessible text is supported and enhanced throughout by superb artwork illustrating the key concepts and mechanisms

    Summary boxes at the end of each chapter provide clear learning points

    Annotated further reading helps readers navigate the wealth of additional information in this complex subject and provides direction for further study

    Reorganized into five sections for improved access to related topics

    Also new to this edition – brand new chapter on evolution and anthropology from the authors of the highly acclaimed Human Evolutionary Genetics A proven and popular textbook for upper-level undergraduates and graduate students, the new edition of Human Molecular Genetics remains the ‘go-to’ book for those studying human molecular genetics or genomics courses around the world.

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    Detaljer
    • SprogEngelsk
    • Sidetal770
    • Udgivelsesdato04-12-2018
    • ISBN139780815345893
    • Forlag CRC Press Inc
    • FormatPaperback
    Størrelse og vægt
  • Vægt2320 g
    • coffee cup img
    10 cm
    book img
    21 cm
    28 cm
    Pensumlister med denne bog
    • Medicin, Semester 2
    • Københavns Universitet, KU
    • Totalt antal bøger: 7
    • kr. 3.674,65
    • Medlemspris: kr. 3.494,65

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Autoradiography Fragile site Pyrimidine Ribosomal RNA Enhancer Baculovirus Karyotyping Somatic Genome editing Pyrosequencing Oligonucleotide Splicing Noncoding RNA Programmed cell death Pattern formation Nucleotide Second messenger Southern Blot Transgenerational Stem cell Chromosomal DNA High-throughput screening ESCs Staining Association studies Fluorophores Heritability Low Copy Number Pluripotent Exon skipping Copy Number Variation INTRON Knockout Library screening Ploidy Epistasis Probe Forensic Odds Ratio Zygote Exome sequencing SiRNA Complementary Chromosome structure Universal Polymerase ES cell Purine Nanoparticle Codon Allele Dominant Disease Modeling Adenoviral vector Endoderm Immunoblotting Ish Insertional Mutagenesis DNA Sequence Bootstrapping Immunoprecipitation Amino acid MAB Twin studies Yeast Artificial Chromosome Comparative genomic hybridization Site-specific recombination Model organism Microinjection Double helix Gamete Promoter Polypeptide Phylogenetic tree Sequence Comparison Chromosome analysis DNA structure Junk DNA EXON Quantitative trait loci Drug target Nuclear transfer DSB Hardy-Weinberg Physical map Antisense Dna molecule Transcript Gain-of-function Ligase Spindle Morphogen Transdifferentiation Concordance Heterochromatin Banding Retrotransposon X-inactivation Antiparallel Diploid DNA Clone DNA Fragment DNA Strand Germ Line DNA Grow DNA Strand Haploid Leading strand MHC Protein Pluripotent Stem Cell Semiconservative Semidiscontinuous SNP Chip TCRs Massively Parallel Sequencing adeno-associated viral vector Affymetrix alternative promoter ancestral haplotype Andrew Read anticodon affected sib pairs anaysis augumentation blood cell disoder allelic exlusion Barr body Base pair causal variant chance effect chromatid complementation test Bacterial Artificial Chromosome candidate region centimorgan consensus sequence Complex disease Chromosome engineering chromosome function bivalent constitutive heterochromatin DNA rReplication cloning system Coefficient of relationship DNA Content dot-blot compound heterozygote dichotomous dideoxy sequencing chiasma chromosome break clinical utility chromosomal abnormality Chromosome disorder Founder effect emperic risk clinical validity coefficient of inbreeding clinical heterogeneity coefficient of selection Gene complementation group extrachromosomal germ layers Haplotype Blocks heteroduplex hemizygous Homeobox haploinsufficiency HapMap human-specific depersonalized medicine DNase-hypersensitive site iterative pyrosequencing Induced pluripotent stem cell high copy number illumina DNA sequencing technologies human genetic disease Embryonic Stem Cell leaky mutation linear chromosome late onset interphase chromosome mapping interactions interspersed repeat locus heterogeneity lagging strand large insert cloning naked nucleic acid misrepair lyonization multifactorial missense nonisotpoic mixoploidy global gene expression paramutation gene superfamily overlapping gene population screening identity by state pseudoautosomal independent assortment phase-known International Mouse Knockout Consortium protein truncation test Pseudogene positional information replication origin restriction fragment length polymorphism short tandem repeat polymorphism segregation ratio splice site Restriction Endonuclease Sib Pair Analysis tag-SNP male lethality three-point crosses triplet repeat disease short interfering RNA untranslated transmission disequilibrium snRNP totipotent lipid-mediated gene transfer Morpholino Loss of heterozygosity northern blot one gene-one enzyme mitochrondrial genome predicted gene nondisjunction megabase fragments mendelian RNA structure Mutation rate phenotypic effect Piwi-protein-interaction RNA polymorphism information content parental origin Recessive pedigree pattern phagemid pharmacongenomics phase 2 metabolism polypill whole exon duplication tissue stem cell two-hit paradigm whole exon deletion RNA genomes single-strand conformation analysis Threshold model transcript profiling two-point mapping whole genome wide association studies yeast two hybrid screening Cre-loxP

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