Human Chromosome Methodology serves as an authoritative guide to cytogenetic techniques. This book presents each phase of laboratory work from preparation of materials for the X and Y bodies to application of other laboratory techniques including chromosome identification, autoradiography, and dermatoglyphics. The text also describes the structure and molecular organization of chromosomes and the advances in the automation of chromosome analysis. It provides a thorough review of the clinical manifestations of chromosome disorders. Organized into 13 chapters, the book presents the illustrated and diagrammatic examples and discussions of the subject matter and detailed tables and charts for learning efficiency. It also provides outlined presentation of cytogenetic procedures and notes and comments for each procedure that will assist readers in erroneous work phases. Moreover, it gives thorough lists of references in each chapter for further reading. This reference will be useful for research professionals, lecturers, genetics and molecular biology students, and members of the medical profession involved in genetics.

Table of Contents:
List of ContributorsPrefacePreface to First Edition1 Structure and Molecular Organization of Chromosomes Text References2 Identification of Human Chromosomes I. Introduction II. Terms Used in the Identification of Human Chromosomes III. Standardization of Nomenclature IV. Recommendations of the Paris Conference V. The Use of the Paris Conference Nomenclature in Clinical Cytogenetics References3 Quinacrine Fluorescent Patterns I. Introduction II. Procedure References4 Staining Constitutive Heterochromatin and Giemsa Crossbands of Mammalian Chromosomes I. Introduction II. Cell Harvest and Slide Preparations III. C-Banding IV. G-Banding References5 Sex Chromatin Bodies I. Introduction II. Discovery and Nomenclature III. Appearance of Barr Bodies IV. Numbers of Barr Bodies per Cell V. Origin and Nature of Barr Bodies VI. Appearance and Nature of Drumsticks VII. Fluorescent Y Bodies VIII. Techniques References6 Human Peripheral Blood Leukocyte Cultures I. General II. The Mononuclear Leukocyte as the Mitotic Cell in Culture III. Collection of Peripheral Blood Leukocytes and Preparation of Cell Inoculum IV. Initiation of Mitosis in Blood Cultures: The Role of Phytohemagglutinin and Other Potentially Mitogenic Agents V. Influence of Culture Conditions on Cell Proliferation VI. Preparation of Metaphase Spreads for Cytogenetic Studies VII. Life Span of PHA-Initiated Cultures: Evidence for Secondary Mitoses in Culture VIII. Further Application of the Leukocyte Culture System IX. Methods for Culturing Human Peripheral Blood Leukocytes References7 Autoradiography of Human Chromosomes I. Introduction II. Principles of Methodology III. Autoradiography in Combination with Other Techniques IV. The Study of DNA Synthesis with Precursors Other Than Thymidine and of the Synthesis of RNA and Chromosomal Proteins V. Technical Schedules VI. Equipment and Materials for Autoradiography References8 Direct Chromosome Preparation of Bone Marrow Cells I. Introduction II. Procedures III. Discussion References9 Skin Culture and Solid Tumor Technique I. Introduction II. Skin Culture III. Solid Tumor Techniques Appendix: Notes on Media and Materials References10 Amniotic Cell Culture I. Introduction II. Methodology III. Discussion References11 Clinical Manifestations of Chromosome Disorders I. Introduction II. Autosomal Chromosome Abnormalities III. Sex Chromosomal Abnormalities IV. Chromosome Abnormalities in Spontaneous Abortion V. Chromosomes and Cancer VI. Diseases Associated with Spontaneous Chromosome Aberrations VII. Radiation, Viruses, and Chemical Clastogens References12 Dermatoglyphics and Chromosomal Aberrations I. Introduction II. Classification of Dermatoglyphics III. Flexion Creases IV. Recording Dermatoglyphics and Creases V. Dermatoglyphics in Clinical Disorders VI. Clinical Applications of Dermatoglyphics: Advantages and Limitations References13 Chromosome Identification by Image Analysis and Quantitative Cytochemistry I. Introduction II. Cytochemistry III. Scanning IV. Image Analysis V. Results VI. Conclusion and Perspectives Appendix: Staining Procedures Used for DNA Cytophotometry of Metaphase Chromosomes ReferencesAuthor IndexSubject Index