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BL
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| Record Number
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713042
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b535231
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| Main Entry
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Richards, Julia E
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| Title & Author
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The human genome : : a user's guide /\ Julia E. Richards, R. Scott Hawley
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| Edition Statement
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3rd ed
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| Publication Statement
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Amsterdam ;Boston :: Elsevier Academic Press,, 2011
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| Page. NO
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xiv, 585 p. :: ill. (chiefly col.) ;; 24 cm
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| ISBN
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0123334454 (pbk.)
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: 9780123334459 (pbk.)
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| Notes
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"Elsevier science & technology books"--opposite t.p
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First ed. by R. Scott Hawley and Catherine A. Mori
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| Bibliographies/Indexes
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Includes bibliographical references and index
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| Contents
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I. How genes specify a trait -- 1. The basics of heredity : how traits are passed along in families -- Mendel's laws -- Selection : artificial, natural, and sexual -- Human genetic diversity -- Human recessive inheritance -- Complementation -- Epistasis and pleiotropy -- Complex syndromes -- One man's disease is another man's trait -- 2. The double helix : how cells preserve genetic information -- Inside the cell -- DNA : the repository of genetic information -- DNA and the double helix -- DNA replication -- Chromatin -- What are chromosomes? -- Euchromatin and heterochromatin -- The mitochondrial chromosome : the "other genome" in the human genome -- DNA in vitro --
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II. How genes function -- 3. The central dogma of molecular biology : how cells orchestrate the use of genetic information -- What is RNA? -- What is RNA for? -- Transcription of RNA -- Orchestrating expression -- Monitoring gene expression -- Interaction of transcription factors -- Inducible genes -- Epigenetic control of gene expression -- What constitutes normal? -- 4. The genetic code : how the cell makes proteins from genetic information encoded in mRNA molecules -- The genetic code -- Moving things in and out of the nucleus -- The central dogma of molecular biology -- Translation -- Messenger RNA structure -- Splicing -- Modular genes -- What are proteins? -- Gene products and development -- 5. We are all mutants : how mutation alters function -- What is a mutation? -- The process of mutation -- How we detect mutations -- Basic mutations -- Mutations in DNA sequences t hat regulate gene expression -- Copy number variation : too much or too little of a good thing -- Expanded repeat traits -- The male biological clock -- Mutation target size -- Absent essentials and monkey wrenches --
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III. How chromosomes move -- 6. Mitosis and meiosis : how cells move your genes around -- The cell cycle -- Mitosis -- Gametogenesis : what is meiosis trying to accomplish? -- Meiosis in detail -- Mechanisms of chromosome pairing in meiosis -- The chromosomal basis of heredity -- Aneuploidy : when too much or too little counts -- Uniparental disomy -- Partial aneuploidies -- The female biological clock -- 7. The odd couple : how the X and Y chromosomes break the rules -- Passing the X and Y chromosomes between generations -- How humans cope with the difference in number of sex chromosomes between males and females -- How X inactivation works -- Skewed X inactivation : when most cells inactivate the same X -- Genes that escape X-inactivation -- Reactivation of the inactive X chromosome in the female germline -- X chromosome inactivation during male meiosis -- X inactivation and the phenotypes of sex chromosome aneuploidy -- The structure of the human Y chromosome -- X-linked recessive inheritance -- X-linked dominant inheritance --
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IV. How genes contribute to complex traits -- 8. Sex determination : how genes determine a developmental choice -- Sex as a complex developmental characteristic -- What do the X and Y chromosomes have to do with sex? -- SRY on the Y : the genetic determinant of male sexual differentiation -- The role of hormones in early development -- Androgen receptor on the X : another step in the sexual differentiation pathway -- Genetics of gender identification -- Genetics of sexual orientation -- 9. Complexity : how traits can result from combinations of factors -- Digenic diallelic inheritance -- Digenic triallelic inheritance -- Multifactorial inheritance -- Quantitative traits -- Additive effects and thresholds -- Is it genetic? -- Genes and environment : inducible traits -- Genes and environment : infectious disease -- Phenocopies -- Genotypic compatibility : whose genome matters? -- Phenotypic heterogeneity : one gene, many traits -- Genotypic and phenotypic heterogeneity -- Variable expressivity -- Phenotypic modifiers -- Biochemical pathways underlying complexity -- Behavioral genetics -- Genes expression : another level of complexity -- 10. The multiple-hit hypothesis : how genes play a role in cancer -- The war on cancer -- Cancer as a defect in regulation of the cell cycle -- Cancer as a genetic disease -- Cancer and the environment -- Tumor suppressor genes and the two-hit hypothesis -- Cell-type specificity of tumor suppressor gene defects -- The multi-hit hypothesis -- The activation of proto-oncogenes and the role of oncogenes in promoting cancer -- Defects in DNA repair -- Personalized medicine -- Cancer biomarkers --
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V. How genes are found -- 11. The gene hunt : how genetic maps are built and used -- What is a genetic map? -- What is a genetic marker? -- Finding genes before there were maps -- Defining the thing to be mapped -- Recombination as a measure of genetic distance -- Physical maps and physical distances -- How did they build genetic maps? -- After the map : what comes next? -- 12. The human genome : how the sequence enables genome-wide studies -- The Human Genome Project -- The human genome sequence -- The other genome projects -- The genes in the human genome -- Human genome variation -- Genome-wide technologies -- Genome-wide association -- Allele sharing and sib pair analysis -- Copy number variation and gene dosage -- Whole genome sequencing --
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VI. How genes play a role in testing and treatment -- 13. Genetic testing and screening : how genotyping can offer important insights -- What is medical genetics? -- Screening vs. testing -- Preimplantation genetic screening -- Prenatal diagnosis during the first trimester -- Prenatal diagnosis during the second trimester -- Amniocentesis and chorionic villus sampling -- Analysis of fetal cells -- Sex selection -- Newborn screening -- Adult genetic screening and testing -- Ethical, legal, and social issues -- 14. Magic bullets : how gene-based therapies personalize medicine -- Replacing a lost gene or function : the RPE65 story -- Replacing a lost gene : ADA deficiency -- Targeting downstream disease pathology -- Suppressing the unwanted genotype : use of siRNAs and miRNAs -- Gene supplement therapy : more of the same -- Strategies for cancer therapy -- Gene-based therapy instead of gene therapy -- Delivering gene therapy -- Do we have to treat the whole body? -- What are the biggest problems with gene therapy? -- So whom do we treat? -- 15. Fears, faith, and fantasies : how the past and present shape the future of genomic medicine -- Fears : a tale of eugenics -- Faith : a tale of ethical, legal, and social advances -- Fantasies : a tale of our genetic future
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| Abstract
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As genetic issues play a growing role in health practice and public policy, new knowledge in this field will continue to have significant implications for individuals and society. Written to communicate sound and modern science in an accessible way for professionals and students with various levels of scientific background, this thoroughly revised edition contributes to creating a genetically literate research and clinical population. With case studies and introductory vignettes which illustrate a wide range of perspectives on complex topics in genetics and updated material on the latest research on disease-specific topics, this book serves as a resource for students and working professionals alike. Key features include: Full-color illustrations which enhance and reinforce key concepts and themes; Chapters that include interest boxes that focus on human health and disease, chapter-opening case studies, and concept statements to engage non-specialist readers; Companion website that includes self tests, electronic artwork, and a guide to additional web resources to meet the developing needs of health care professionals and researchers
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| Subject
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Human gene mapping
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| Subject
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Human genetics
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Human genome
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Genome, Human
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Chromosome Mapping
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| Subject
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Genetics, Medical
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| LC Classification
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QH431.H353 2011
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| NLM classification
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QU 470R516h 2011
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| Added Entry
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Hawley, R. Scott
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Hawley, R. Scott.
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