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Human Genetics and Genomics. A Practical Guide. Edition No. 1

  • ID: 5179135
  • Book
  • March 2020
  • 160 Pages
  • John Wiley and Sons Ltd
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Finally meeting the need for a laboratory manual on human genetics, this practical guide is the perfect companion title to all major standard textbooks on the subject. The authors all have a high-level research background and are actively involved in teaching and counseling.
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.
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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

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Bahar Taneri
Esra Asilmaz
Türem Delikurt
Pembe Savas
Seniye Targen
Yagmur Esemen
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