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Human Chromosomes: Structure, Behavior, and Effects - Eeva Therman, Millard Susman

Human Chromosomes: Structure, Behavior, and Effects

Buch | Softcover
396 Seiten
1995 | 3rd Revised edition
Springer-Verlag New York Inc.
978-0-387-97871-0 (ISBN)
CHF 119,75 inkl. MwSt
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The third edition of this successful text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. It covers both basic and up-to-date material on normal and defective chromosomes. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes. Reviews of previous editions have described this book as a "gem" and "an excellent text".

1. Origins and Directions of Human Cytogenetics.- The Dark Ages.- The Hypotonic Era.- The Trisomy Period.- Chromosome Banding Era.- Human Sex Chromosomes.- Evolution of Human Chromosomes.- Nomenclature of Human Chromosomes.- The Molecular Era.- Ultrastructure of Eukaryotic Chromosomes.- Functional Structure of Human Chromosomes.- Structure of Interphase Nuclei.- Somatic Cell Cytogenetics.- Sex Chromosomes and Sex Determination.- Mutagenesis Studies.- Chromosome Instability Syndromes.- Mapping of Human Chromosomes.- Chromosomes and Cancer.- Clinical Cytogenetics.- The Future of Human Cytogenetics.- References.- 2. Structure of the Eukaryotic Chromosome and the Karyotype.- Metaphase Chromosome.- Primary Constriction.- Secondary Constrictions.- Characterization of Metaphase Chromosomes.- Chromosome Number.- Chromosome Size.- Shape of Chromosomes.- DNA Content of Nuclei.- Human Chromosome Complement.- Banded Human Karyotype.- Euploid Chromosome Changes.- Aneuploid Chromosome Changes.- Structural Changes in Chromosomes.- References.- 3. Mitotic Cycle and Chromosome Reproduction.- Significance of Mitosis.- Interphase.- Prophase.- Prometaphase.- Metaphase.- Anaphase.- Telophase.- Nondisjunction and Loss of Chromosomes.- Mitotic Cycle.- Chromosome Replication.- References.- 4. Methods in Human Cytogenetics.- Direct Methods.- Tissue Culture Techniques.- Prenatal Studies.- Meiotic Studies.- Sex Chromatin Techniques.- Banding Techniques.- Prophase Banding.- Replication Studies.- Nomenclature of Human Chromosomes.- Quantitative Methods.- References.- 5. Molecular Methods.- Fragmentation of DNA.- Cloning.- Flow Cytometry and Chromosome Sorting.- In Situ Hybridization.- Polymerase Chain Reaction (PCR).- Yeast Artificial Chromosomes (YACs).- References.- 6. Longitudinal Differentiation of Eukaryotic Chromosomes.- Longitudinal Differentiation of Chromosomes.- Molecular Differentiation of Chromosomes.- Prebanding Studies.- Banding Studies on Human Chromosomes.- Nucleoli and Chromocenters.- Constitutive Heterochromatin.- Facultative Heterochromatin.- Transcription of Chromosomes.- Role of Heterochromatin.- References.- 7. Significance of Chromosome Bands.- Chromosome Banding.- Role of the Bands.- Future Problems.- References.- 8. Architecture and Function of the Eukaryotic Chromosome.- Chromosome Architecture.- The Chromosome Scaffold.- Architecture as Related to Regulation of Gene Function.- Telomeres.- Centromeres and Kinetochores.- Relationship between Chromosome Architecture and Nuclear Architecture.- References.- 9. Chromosome Structural Aberrations.- Origin of Structurally Abnormal Chromosomes.- Chromosome Breaks and Rearrangements.- Chromatid Breaks and Rearrangements.- Telomeres.- Telomere Associations.- Origin of Dicentric Chromosomes, Including Isodicentrics and Isochromosomes.- Inactivation of the Centromere.- Misdivision.- Centric Fusion.- Triradial and Multiradial Chromosomes.- Fragile Sites.- References.- 10. Causes of Chromosome Breakage.- Mechanisms of Chromosome Breakage.- Spontaneous Chromosome Breaks.- Radiation-Induced Breaks.- Chemically Induced Breaks.- Virus-Induced Breaks.- Enzyme-Induced Breaks.- Genetic Causes of Chromosome Breaks.- Nonrandomness of Chromosome Breaks.- Methods in Chromosome-Breakage Studies.- Rules for Chromosome-Breakage Studies.- References.- 11. Chromosome Instability Syndromes.- Genotypic Chromosome Breakage.- Bloom Syndrome.- Fanconi Anemia.- Ataxia Telangiectasia.- Xeroderma Pigmentosum.- Other Conditions with Increased Chromosome Aberrations.- Chromosome Instability Syndromes and Cancer.- References.- 12. Sister Chromatid Exchanges and Mitotic Crossing-Over.- Detection of Sister Chromatid Exchanges.- Occurrence of SCE.- SCE in Mutagenesis Research.- Mitotic Crossing-Over.- BS as a Model for Chromosome Instability Syndrome.- Segregation after Mitotic Recombination.- Origin of Mitotic Chiasmata.- Gene Amplification.- References.- 13. Cell Fusion, Prematurely Condensed Chromosomes, and the Origin of Allocyclic Chromosomes.- Prematurely Condensed Chromosomes (PCC).- Uses of PCC Formation.- Origin of Allocyclic Chromosomes.- References.- 14. Chromosome Arrangement in Interphase and in Differentiated Nuclei.- Chromosome Arrangement.- Hypotheses Proposing a Nonrandom Chromosome Arrangement.- Chromosome Arrangement and Differentiation.- Conclusions.- References.- 15. Modifications of Mitosis.- Endoreduplication.- Polyteny.- Endomitosis.- C-Mitosis.- Restitution.- Processes Giving Rise to Multinucleate Cells.- Amitosis.- Multipolar Mitoses.- Other Mitotic Abnormalities.- References.- 16. Chromosomal Differentiation of Cells.- Methods.- Somatic Polyploidy.- Amplification and Underreplication.- Chromosomes and Cell Differentiation.- References.- 17. Main Features of Meiosis.- Significance of Meiosis.- Meiotic Stages.- Premeiotic Interphase.- Leptotene (or Leptonema).- Zygotene (or Zygonema).- Pachytene (or Pachynema).- Diplotene (or Diplonema).- Diakinesis.- Metaphase I.- Anaphase I.- Telophase I.- Interkinesis.- Meiotic Division II.- Some Meiotic Features.- References.- 18. Details of Meiosis.- Structure of Chiasmata.- Number of Chiasmata.- Synaptonemal Complex.- Meiotic Behavior of More Than Two Homologous Chromosomes.- Human Meiosis.- Premeiotic and Early Meiotic Stages in the Human.- Meiosis in Human Spermatocytes.- Behavior of X and Y Chromosomes.- References.- 19. Meiotic Abnormalities.- Nondisjunction of Autosomes.- Nondisjunction of Sex Chromosomes.- Misdivision of the Centromere.- Chromosomally Abnormal Human Sperm.- Male Infertility.- Environmental Causes of Meiotic Nondisjunction.- Parental Age.- Genetic Causes of Nondisjunction.- Origin of Diploid Gametes.- References.- 20. Human Sex Determination and the Y Chromosome.- Y Chromosome.- Sex Determination in Humans.- Fine Structure of the Y Chromosome.- Genes on the Y Chromosome.- Abnormal Y Chromosomes.- References.- 21. Human X Chromosome.- Structure of the X Chromosome.- X Chromatin or Barr Body Formation.- Inactivation of the X Chromosome.- Reactivation of the X Chromosome.- X;Y Translocations.- Sex Reversal.- References.- 22. Abnormal Human Sex Chromosome Constitutions.- Aneuploidy of X Chromosomes in Individuals with a Female Phenotype.- Sex Chromosome Aneuploidy with a Male Phenotype.- Various Abnormalities in X Chromosome Behavior.- References.- 23. Functional Structure of the Human X Chromosome.- Functional Map of the Human X Chromosome.- Inactivation Center.- Always-Active Regions.- Critical Region.- Summary of X Inactivation.- References.- 24. Numerically Abnormal Chromosome Constitutions in Humans.- Abnormalities of Human Chromosome Number.- Human Triploids.- Imprinting and Uniparental Disomy.- Human Tetraploids.- Hydatidiform Moles.- Anomalies Caused by Chromosomal Imbalance.- 13 Trisomy (Di Trisomy, Patau Syndrome).- 21 Trisomy Syndrome (Down Syndrome).- 18 Trisomy Syndrome (Edwards Syndrome).- Other Autosomal Aneuploidy Syndromes.- Spontaneous Abortions.- Nonrandom Participation of Chromosomes in Trisomy.- References.- 25. Structurally Abnormal Human Autosomes.- Structurally Abnormal Chromosomes.- Chromosomal Polymorphisms.- Quantitative Comparisons.- Pericentric Inversions.- Paracentric Inversions.- Deletions or Partial Monosomies.- Cri du Chat (Cat Cry) Syndrome.- Ring Chromosomes.- Insertions.- Duplication or Pure Partial Trisomy.- Mosaicism.- References.- 26. Reciprocal Translocations.- Occurrence.- Breakpoints in Reciprocal Translocations.- Multiple Rearrangements.- Phenotypes of Balanced Translocation Carriers.- Phenotypes of Unbalanced Translocation Carriers.- Fetal Death.- Examples of Translocation Families.- Meiosis in Translocation Carriers.- Genetic Risk for Translocation Carriers.- Sperm Chromosomes in Meiotic Segregation Analysis.- References.- 27. Robertsonian Translocations.- Occurrence.- Monocentric and Dicentric Chromosomes.- Nonrandom Participation of Acrocentric Chromosomes in RTs.- Causes of Nonrandom Participation of Chromosomes in RTs.- Segregation in Carriers of Robertsonian Translocations.- Segregation in Sperm Cells of RT Carriers.- Interchromosomal Effects.- Conclusions.- References.- 28. Double Minutes and Homogeneously Stained Regions.- What are DMs and HSRs?.- Structure of Double Minutes.- Homogeneously Stained Regions and C-Minus Chromosomes.- DMs and HSRs as Expressions of Gene Amplification.- DMs and HSRs are Interchangeable.- Origin of DMs and HSRs.- Significance of HSRs and DMs.- References.- 29. Chromosomes and Oncogenes.- What is Cancer?.- Cancer Induction.- Oncogenes.- Reciprocal Translocations and Oncogenes.- Cancer Suppressor Genes or Anti-Oncogenes.- Multistep Carcinogenesis.- References.- 30. Chromosomal Development of Cancer.- Chromosomes and Cancer.- Chromosome Studies in Ascites Tumors.- Chromosome Studies in Cancer.- Stemline and Tumor Development.- Mitotic Aberrations in Cancer.- Selection and Tumor Progression.- References.- 31. Mapping of Human Chromosomes.- Gene Mapping.- Identifying Map Sites.- Family Studies.- Somatic Cell Genetics.- Chromosome Rearrangements.- Other Uses of Deletions and Translocations in Mapping.- In Situ Hybridization.- Recombinant DNA Gene Mapping Methods.- Conclusions.- References.- Index of Names.

Erscheint lt. Verlag 13.1.1995
Reihe/Serie Springer Study Edition
Zusatzinfo black & white illustrations
Verlagsort New York, NY
Sprache englisch
Maße 156 x 234 mm
Gewicht 554 g
Themenwelt Studium 2. Studienabschnitt (Klinik) Humangenetik
Naturwissenschaften Biologie Humanbiologie
Naturwissenschaften Biologie Zellbiologie
ISBN-10 0-387-97871-2 / 0387978712
ISBN-13 978-0-387-97871-0 / 9780387978710
Zustand Neuware
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