Based on a standard curriculum in human genetics, each chapter equals one practical unit of the course and topics range from basics in human inheritance to genetics in major disease clusters and from bioinformatics and personalized medicine to genetic counseling.
Table of Contents
About the Authors xi
Introduction xv
1 Exploring Online Genetics Sources 1
Background 1
Human Genome Project 2
National Center for Biotechnology Information (NCBI) 2
UCSC Genome Browser 3
The Encyclopedia of DNA Elements (ENCODE) 3
Roadmap Epigenomic Project 5
References 5
Exercise Questions 6
Additional Exercise Questions 11
2 Observation of Human Inheritance 13
Background 13
Mendelian Genetics 13
The Transmission of Hereditary Characteristics 16
Mendelian Disorders 19
References 20
Exercise Questions 21
Additional Exercise Questions 22
3 Reading, Understanding, and Constructing Human Pedigrees 25
Background 25
Basic Pedigree Nomenclature 26
Modes of Inheritance 26
Autosomal Recessive Inheritance 28
Pedigrees Representing Autosomal Recessive Inheritance 28
Autosomal Dominant Inheritance 29
Pedigrees Representing Autosomal Dominant Inheritance 30
X-Linked Recessive Inheritance 30
Pedigrees Representing X-Linked Recessive Inheritance 31
X-Linked Dominant Inheritance 32
Pedigrees Representing X-Linked Dominant Inheritance 32
Y-Linked Inheritance 34
Pedigrees Representing Y-Linked Inheritance 34
Non-Mendelian Patterns of Inheritance 35
Confounding Factors in Pedigree Generation and Interpretation 36
References 36
Exercise Questions 38
Additional Exercise Questions 39
4 Cytogenetics 43
Background 43
Generation of Karyograms/Chromosome Banding 45
FISH, Fluorescent In Situ Hybridization 47
Comparative Genomic Hybridization (CGH) and Array-Based CGH Technology 48
Chromosomal Abnormalities 48
Numerical Chromosomal Abnormalities 49
Structural Chromosomal Abnormalities 50
References 51
Exercise Questions 52
Additional Exercise Questions 54
5 Exploring DNA, RNA, and Protein Sequence Databases and Genome Browsers 55
Background 55
General Biological Databases 57
RNA-Specific Databases 59
Protein-Specific Databases 61
Regulatory DNA Database 62
Genome Browsers 65
References 67
Exercise Questions 67
Additional Exercise Questions 68
6 Exploring Online Bioinformatics Tools 71
Background 71
BLAST 71
ExPASy 72
Clustal Omega 74
Reactome 76
References 77
Exercise Questions 77
Additional Exercise Questions 79
7 Multifactorial Inheritance and Common Complex Diseases 81
Background 81
Polygenic Complex Diseases 82
Investigating Complex Traits 82
Obesity as a Complex Disease 83
Diabetes Mellitus Type 2 as a Complex Disease 84
Coronary Artery Diseases as Complex Diseases 85
References 86
Exercise Questions 88
Additional Exercise Questions 88
8 Neurogenetics and Behavioral Genetics 91
Background 91
Genetic Regulation of Neural Development 91
Structure and Function of the Nervous System 92
Understanding the Genetics of Neurological Disease 94
Examples of Neurogenetic Disorders 94
Huntington’s Disease 94
Parkinson’s Disease 95
Rett Syndrome 95
Behavioral Genetics 96
Genetics of Depression 97
Genetics of Drug Addiction 97
Genetics of Schizophrenia 98
References 99
Exercise Questions 100
Additional Exercise Questions 101
9 Cancer Genetics 103
Background 103
Cell Cycle and Its Regulation 104
Oncogenes and Tumor Suppressor Genes 105
Carcinogens/Environmental Factors in Cancer 107
Breast Cancer 108
Role of Molecular Medicine in Breast Cancer Treatment 110
Recent Advances in Cancer Diagnosis and Treatment 111
References 112
Exercise Questions 113
Additional Exercise Questions 114
10 Genetic Counseling 115
Background 115
References 117
Exercise Questions 117
Additional Exercise Questions 119
11 Evolving Tools in Genome Editing: CRISPR-Cas 121
Background 121
Mechanism of CRISPR-Cas9 System 123
Applications of CRISPR-Cas9 System 123
Generation of Animal Models and Engineering Cells 123
Somatic Genome Editing 124
Repair of Genetic Disorders 124
Functional Genomic Screening 124
Treatment of Infectious Diseases 125
Other Applications of CRISPR-Cas9 System 125
References 126
Acknowledgment 127
Exercise Questions 127
Additional Exercise Questions 128
Glossary 129
Index 139
