The Human Genome : Features, Variations and Genetic Disorders.

Intro -- THE HUMAN GENOME: FEATURES,VARIATIONS AND GENETIC DISORDERS -- Contents -- Preface -- CpG Islands in the Human Genome:Identification, Features, Mutationsand Diseases -- Abstract -- Introduction -- Identification of CGIs and Methylation -- Computational Algorithms for Identification of CGIs -- Mapping and Prediction of Methylation Status Using CGIs -- Features, Mutation Patterns and Evolution of CGIs -- Distribution and Features of CGIs in the Human Genome -- Recombination Rate and CGIs -- Gene Expression and CGIs -- Isochores and Mutation Patterns in CGIs -- Molecular Evolution of CGIs -- Methylation Status of CGIs and Diseases -- Conclusions -- Acknowledgements -- References -- The Sex Chromosomes: Sequence,Evolution and Human Diseases -- Abstract -- Introduction -- The Sequences of the Human Sex Chromosomes -- The X chromosome sequence -- The Y chromosome sequence -- Origin and Evolution of Human Sex Chromosomes -- Sex-determination system -- Human sex chromosomes -- Evolution of human sex chromosomes -- Pseudoautosomal regions of sex chromosomes -- The X chromosome inactivation -- Sex Chromosomes and Disease -- Sex chromosome aneuploidy -- Turner syndrome and partial monosomies -- X-linked premature ovarian failure: a complex disease -- X-linked mental retardation: many genes for a complex disorder -- NEMO and incontinentia pigmenti disease -- X-linked Eye Disorders -- Color blindness -- X-linked retinitis pigmentosa (XLRP) -- X-linked retinoschisis (XLRS) -- Choroideremia -- Conclusion -- References -- Role of Extrachromosomal Elements inHL-60 Human Leukemia Cells -- Abstract -- Introduction -- Large Extrachromosomal Elements (LEEs) -- Structure of LEEs and DMINs -- Genes Encoded on the Amplicon -- Stability of LEEs -- Application of LEEs as Vectors forCancer Gene Therapy -- Conclusions -- References.

Molecular Basis ofHuman Coagulopathies -- Abstract -- Introduction -- Historical aspects of blood coagulation -- Recent technological advances in biotechnology -- Molecular basis of bleeding disorders -- Scope of review -- X-Linked Coagulopathies - The CommonHemorrhagic Disorders -- Hemophilia A -- Hemophilia B -- von Willebrand Disease -- Autosomal Recessive Coagulopathies - The RareCoagulation Disorders -- Prothrombin -- Tissue Factor -- Factor V -- Factor VII -- Factor X -- Factor XI -- Factor XIII -- Fibrinogen -- Multiple Deficiencies -- Combined FV/VIII deficiency -- Vitamin K dependant coagulation factor deficiencies -- Advances in DNA Sequence Analysis - TowardsPersonalized Medicine -- Diagnosis and Treatment of Coagulopathiesin the Post-Genomic Era -- Conclusion -- References -- Itinerant Genome -- Abstract -- 1. Introduction -- 2. Mammalian Genomes -- 3. Classification of Mutational Changes -- 4. Information Content of the Human Genome -- 5. Molecular Evolution as the Information Channel -- 6. Analyses of the Genomic changes through theAnalyses of the Dinucleotide Replacements -- Acknowledgement -- References -- Wobble Splicing: Subtle AlternativeSplicing at Tandem Splice Sites inHuman Genome -- Abstract -- Overview -- Splicing and Traditional Alternative Splicing -- Wobble Splicing -- Wobble Splicing Increase Protein Diversity -- Mechanism of Wobble Splicing -- Wobble Splicing Indiscriminately Selects at Tandem Motif -- Wobble Splicing Occurred Frequently at short-distance Tandem SpliceSites -- Concluding Remarks -- References -- Alternative Splicing TranscriptsAffected by Junction Tandem Repeatsin the Human Genome -- Abstract -- Introdcution -- Alternative Splicing in Transcription -- Wobble Splicing at Tandem Splice Site Sequences -- Results -- Tandem Repeats in Wobble Splicing Generation.

Alternative Wobble Splice Site Selection in J-TRs -- References -- Genetic Susceptibility to ComplexTraits: Moving Towards InformedAnalysis of Whole-Genome Screens -- Abstract -- Introduction -- Evolution of Genome-Wide Approaches forDetermining Susceptibility -- Genetic Susceptibility to Non-Hodgkin'sLymphoma -- Variants within DNA Repair Genes -- Variants within Folate Related Genes -- Immune Related Gene Variants -- Inconsistencies in Previous Associations -- Informed Analysis of Genome-Wide SNPMicroarray Data -- Methodology for Informed Analysis ofGenome-Wide Susceptibility Screens -- Results of Pilot Study into NHL Susceptibility -- Conclusion -- References -- The Personal Genome: Science andBeyond -- Abstract -- Introduction -- Science and Technology -- Array-Based Technology -- Next-Generation Sequencing -- Third Generation Sequencing -- Systems Biology -- Structural Variants and CNVs -- The International 1000 Genomes Project -- Applications -- Personal Ancestry -- Personal Disease Risk Estimation -- Translational Preventive Medicine -- Pharmacogenomics -- Concerns -- Data Storage -- Toward Personal Genome Sequencing -- Conclusion -- References -- Unstable Repeat Expansion andHuman Disease -- Abstract -- Introduction -- Mechanisms of Repeat Expansion -- Human Diseases Linked to MicrosatelliteExpansion -- Dentatorubropallidoluysian Atrophy (DRPLA) -- Progressive Myoclonus Epilepsy of Unverricht-Lundborg type 1 (EPM1) -- Fragile X Syndrome (FXS) -- Friedreich ataxia (FA) -- Huntington's Disease (HD) -- Myotonic Dystrophy (DM) -- Spinal Bulbar Muscular Atrophy (SBMA) -- Spinocerebellar Ataxias (SCAs) -- Microsatellite Instability as a Hallmark of Cancer -- Potential Therapies in Diseases of UnstableRepeat Expansion -- Conclusion -- Acknowledgements -- References -- SNPs and CNVs in Human Disorders -- Abstract -- Introduction.

SNPs in Gene Discovery -- Genomic Variation and Drug Metabolizing Genes -- Properties of CNVs -- Conclusion -- Acknowledgement -- References -- An Outlook on Uterine Neoplasms:From Hormonal and DNA Damaging toCervical and Endometrial CancerDevelopment and Minimally InvasiveManagement -- Abstract -- Introduction -- Endometrial Cancer and Hormonal Carcinogenesis -- Endometrial Hyperplasia: A Possible Pre-Cancer -- Minimally Invasive Surgical Treatment of Endometrial Hyperplasia -- Minimally Invasive Surgical Treatment of Endometrial Cancer -- Cervical Tumors and HPV Correlation -- Genomic Detection of HPV by DNA Chips: A New Frontier -- Mechanisms of Pathogenesis of Cervical Tumors by HPV -- Minimally Invasive Surgical Treatment of Benign Cervical Pathologies -- Cervical Cancer and Endoscopic Surgical Treatments -- Cervical Cancer and Vaccine -- Conclusions -- References -- The Perception of an InformationSociety and the Emergence of the FirstComputerized Biological Databases,1948-1992 -- Abstract -- 1. Introduction -- 2. The Early Information Society and the FirstDatabase Efforts in Biology -- 2.1. The Systems Men and Their Utopia -- 2.2. Information enters Biology -- 2.3. Official Skepticism -- 3. Genomics, A New Information Discourseand DNA Databases -- 3.1. Global Markets, Information Technologies and Policies -- 3.2. The Development of the European Database -- 3.3. Genomics and the Rise of Data Gathering -- 4. Conclusion -- Acknowledgements -- References -- Lessons Learned in Human TissueBanking for Acquiring High QualityBiospecimens for TranslationalGenomic Research: A Perspectiveof the IU Simon CancerCenter Tissue/Fluid BioBank -- Abstract -- Bioethics, Biohazard and Safety -- IRB Review -- HIPAA Compliance -- Collection -- Tissue Procurement -- Informed Consent -- Patient Confidentiality -- Banking -- Histology.

RNA Evaluation on Frozen Tissues -- DNA and RNA Evaluation on Formalin Fixed Paraffin Embedded Tissues -- Conclusions -- References -- The Future of the Human GenomicsResearch: Three UnansweredQuestions -- Abstract -- Acknowledgements -- References -- Index.

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