Molecular Genetics: (Quick Look Medicine S.)

In today's world genetics is molecular, whether one is dealing with bacteria, mice or humans. In this breakthrough text, IMS: Medical Molecular Genetics, that message is relayed to medical students taking a course in medical genetics and to house officers who suddenly find themeselves at a loss with the new genetics they encounter. Understanding the molecular basis of human genetics has become essential in diagnosing and treating human disease. The goal of this book is to present to the reader the basic principles needed to use the ddiscoveries in this remarkable field. IMS: Medical Molecular Genetics covers the basic structure, properties, and functions of nucleic acids; mutations and their consequences on the function of proteins; DNA repair processes and their relationships to human disease; chormosome structure and the basis of inheritance; modern methods for detecting defective genes; and the basis of positional cloning and how it is currently being used to map disease genes. The clinical aspects of genetics and discussions of syndromes and dysmorphology, prenatal diagnosis; and genetic counselling are also presented. The most up-to-date information on cancer genetics includes the role of oncogenes and tumor suppressor genes in tumorigenesis and the use of molecular tests to diagnose cancer genes.

Table of Contents:
Contributors Preface Acknowledgements Dedication Introduction PART I: MOLECULAR ASPECTS OF HUMAN GENETICS 1. DNA Structure 2. RNA Structure 3. Chromatin and Chromosome Structure 4. Cytogenetics 5. The Cell Cycle 6. DNA Replication 7. Mitosis 8. Meiosis 9. Transcription 10. RNA Processing 11. Translation: mRNA-Directed 12. Protein Synthesis 13. Mutations in Human DNA 14. DNA Repair I: Repairing Mistakes Made During DNA Replication 15. DNA Repair II: Repairing Damaged or Altered Bases in DNA 16. DNA Damage Control by p53 17. Regulation of Gene Expression I: Cis-Acting Elements and Trans-Acting Transcription Factors 18. Regulation of Gene Expression II: Transcription Initiation 19. Regulation of Gene Expression III: Inducible Control of Transcription 20. Regulation of Gene Expression IV: Developmental Control of the Globin Genes 21. Abnormal Transcriptional Control: Oncogenes and Cancer 22. Tumor Suppressor Genes 23. Tumor Suppressor Protein pRb Regulates Cell Growth 24. Complex Transcriptional Units and Translational ControlQuestions, Answers and Explanations PART II: MENDELIAN INHERITED DISEASES 25. Mendelian Inheritance 26. Autosomal Recessive Inheritance I: General Concepts 27. Autosomal Recessive Inheritance II: Common Mutations Associated with Some Disorders 28. Autosomal Recessive Inheritance III: Clinical Aspects of Some Disorders 29. Autosomal Dominant Inheritance I: General Concepts30. Autosomal Dominant Inheritance II: Trinucleotide Expansion Disorders 31. Autosomal Dominant Inheritance III: Osteogenesis Imperfecta - a Disorder of Collagen Biosynthesis 32. Autosomal Dominant Inheritance IV: Familial Hypercholesterolemia and Haploinsufficiency 33. Autosomal Dominant Inheritance V: Genetic Predisposition for Developing Cancer - Retinoblastoma, Li-Fraumeni Syndrome, and Familial Adenomatous Polyposis 34. Autosomal Dominant Inheritance VI: Genetic Predisposition for Developing Cancer - Hereditary Nonpolyposis Colorectal Cancer, Neurofibromatosis 1 and 2 35. Autosomal Dominant Inheritance VII: Genetic Predisposition for Developing Cancer - Hereditary Breast and Ovarian Cancer 36. X-Linked Inheritance I: General Concepts - Muscular Dystrophy, an X- Linked Recessive Disorder37. X-Linked Inheritance II: The Fragile X Syndrome 38. Mitochondrial Inheritance: Diseases Associated with Mutations in Mitochondrial DNA 39. Population Genetics: Hardy-Weinberg Equilibrium 40. Recurrence Risk Estimations Questions,Answers and Explanations PART III: MAPPING AND CLONING OF HUMAN GENES 41. Nucleic Acid Hybridization 42. Methods for Detecting Defective Genes I: The Polymerase Chain Reaction 43. Methods for Detecting Defective Genes II: ASOH and SSCP Analysis 44. Molecular Cloning of Human Genes I: Restriction Endonucleases and Vectors 45. Molecular Cloning of Human Genes II: Cloning a Human DNA Fragment Using a Plasmid Vector 46. Physical Mapping I: Somatic Cell Hybrids 47. Physical Mapping II: Molecular Technology 48. Genetic Mapping I: Linkage and Recombination Analysis 49. Genetic Mapping II: LOD Scores and Setting Phase 50. Approaches to Cloning Human Genes: Functional Cloning, Positional Cloning, and the Positional Candidate Gene Approach 51. Positional Cloning of the Duchenne Muscular Dystrophy Gene Questions, Answers and Explanations PART IV: CLINICAL ASPECTS OF HUMAN GENETICS 52. Chromosomal Abnormalities I: Numerical Abnormalities 53. Trisomy 21 (Down Syndrome 54. Trisomy 18 (Edwards Syndrome) and Trisomy 13 (Patau Syndrome) 55. Chromosomal Abnormalities II: Structural Abnormalities 56. Microdeletion Syndromes: Prader-Willi and Angelman Syndromes 57. Sex Chromosomes I: The X and Y Chromosomes and X Inactivation 58. Sex Chromosomes II: Numerical and Structural Abnormalities 59. Chromosomal Abnormalities Associated with Cancer 60. Prenatal Diagnosis 61. Gene Therapy I: Nonviral Vectors for Gene Therapy 62. Gene Therapy II: Retroviral Vectors for Gene Therapy 63. Gene Therapy III: Adenoviruses, Adeno-Associated Viruses, and Mammalian Artificial Chromosomes 64. Gene Therapy and the Treatment of Human Diseases 65. Animal Models of Human Disease Questions, Answers and Explanations References Index