Human Chromosome Methodology (eBook)

Front Cover 1
Human Chromosome Methodology 4
Copyright Page 5
Table of Contents 10
PREFACE 8
INTRODUCTION 14
Chapter 1. Sex Chromatin Techniques 16
I. Introduction 16
II. Historical Sketch 17
III. Morphological Characteristics of the Sex Chromatin 18
IV. Sex Chromatin Techniques 20
V. Origin of the Sex Chromatin 28
VI. Sex Chromatin Patterns and Sex Chromosome Complexes 29
Acknowledgments 31
References 31
Chapter 2. Human Peripheral Blood Leucocyte Cultures 36
I. General 37
II. The Mononuclear Leucocyte as the Mitotic Cell in Culture 38
III. Collection of Peripheral Blood Leucocytes and Preparation of Cell Inoculum 41
IV. Initiation of Mitosis in Blood Cultures: The Role of Phytohemagglutinin and Other Potentially Mitogenic Agents 48
V. Influence of Culture Conditions on Cell Proliferation 51
VI. Preparation of Metaphase Spreads for Cytogenic Studies 53
VIl. Life Span of PHA Initiated Cultures: Evidence for Secondary Mitoses in Culture 55
VIII. Further Application of the Leucocyte Culture System 56
IX. Methods for Culturing Human Peripheral Blood Leucocytes 57
Acknowledgments 61
References 61
Chapter 3. Direct Chromosome Preparations of Bone Marrow Cells 66
I. Introduction 66
II. Procedures 67
III. Discussion 68
References 71
Chapter 4. The Skin Culture Technique 72
I. Introduction 72
II. Media and Materials 73
III. Step by Step Procedure 78
IV. General Discussion of Method 81
Appendix 87
References 88
Chapter 5. Direct Handling of Germ Cells 90
I. Introduction 90
II. Fixing, Squashing, and Staining Gonadal Material 91
III. Various Methods of Pretreatment 92
IV. Interpreting the Findings 100
V. Summary 105
Acknowledgments 105
References 105
Suggested Reading 105
Chapter 6. Autoradiography of Human Chromosomes 106
I. Introduction 106
II. Methodology 109
III. Synopsis and Sequence of Technical Procedures for Autoradiography of Human Chromosomes 112
IV. Techniques 113
Appendix 123
Acknowledgments 124
References 124
Chapter 7. Bright Field, Phase Contrast, and Fluorescence Microscopy 126
I. Introduction 126
II. Theory of Light Microscopes 127
III. Properties of Microscopic Lens Systems: Bright Field Microscopy 132
IV. Phase Contrast Microscopy 138
V. Fluorescence Microscopic Technique 140
References 142
Chapter 8. Applied Photography in Chromosome Studies 144
I. Introduction 144
II. Photomicrography 146
III. Photosensitive Materials and Processing 157
Appendix 167
References 167
Chapter 9. Identification of Chromosomes 170
I. Morphological Identification in the Absence of Special Markers 170
II. Markers and Other Aids to Chromosome Identification 181
III. Nomenclature 188
IV. The Human Complement 192
Acknowledgments 200
References 200
Chapter 10. Human Chromosomes in Disease 202
I. Introduction 202
II. Sex Chromosomal Abnormalities 204
III. Autosomal Chromosome Abnormalities 224
IV. Chromosomes in Malignant Diseases 245
V. Diseases with a Normal Chromosome Complement 248
VI. Conclusion 248
Acknowledgments 250
References 250
AUTHOR INDEX 258
SUBJECT INDEX 267