Human Genetics and Genomics A Practical Guide
, by Taneri, Bahar; Asilmaz , Esra; Delikurt , Türem; Savas , Pembe; Targen , Seniye; Esemen , Yagmur
- ISBN: 9783527337484 | 3527337482
- Cover: Paperback
- Copyright: 6/2/2020
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.
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.
Bahar Taneri is a Professor of Molecular Biology and Genetics at Eastern Mediterranean University (EMU), Famagusta, Cyprus. After obtaining her Ph.D. degree in Biomedical Sciences, from The Rockefeller University, New York, USA in 2005, she has taught several Genetics and Genomics modules at EMU, where she has founded the Molecular Biology and Genetics undergraduate program. At EMU, she has served as the editor-in-chief of the University Research Newsletter for two years. She has also been chairing the Department of Biological Sciences since 2013. She is an affiliated Researcher of Institute for Public Health Genomics, Department of Genetics and Cell Biology, Faculty of Health, Medicine & Life Sciences at Maastricht University, Netherlands since 2011. She authored several publications in the field of genome biology and personalized medicine; and received several awards including a Fulbright Scholarship. Currently, her main research interests include human genomics, epigenomics and efficient translation of personalized genome-based findings into healthcare and medicine for prediction and prevention of common complex diseases. She is a founding member of the Medical Biotechnology Master's program at EMU, where she teaches modules including Genome Editing.
Esra Asilmaz is currently a Locum Consultant in Gastroenterology and General Internal Medicine at Homerton University Hospital in London, UK. She obtained her Ph.D. degree in Molecular Genetics from The Rockefeller University, NYC, USA in 2004. She subsequently obtained her Bachelor of Medicine, Bachelor of Surgery degree in 2009 from St. George's University of London, UK. Between 2009-2011, she completed an Academic Foundation Programme at St. Thomas' and Guy's Hospital, London, UK. During this time, she worked at Professor Trembath's Laboratory of Human Genetics and was involved in the identification of Notch2 mutations in Hadju-Cheney Syndrome, a rare genetic condition. She was an Academic Clinical Fellow at University College Hospital, London, UK between 2011-2014 and was a member of Dr. Oben's laboratory at The Institute of Liver and Digestive Health. She obtained her MRCP (UK) Diploma in 2014 and Specialist Examination in Gastroenterology in 2016. She obtained her CCT in Gastroenterology and General Internal Medicine in September 2019.
Turem Delikurt is a registered genetic counsellor. She graduated with a BSc in Biology from the University of South Dakota, USA in 2003. She completed her MSc in Genetic Counselling with a merit from the University of Manchester, UK in 2006. She has been working as a genetic counsellor in Cyprus since 2006. In 2015, she was registered by the European Board of Medical Genetics. Her main research interest is the exploration of genetic counselling in the context of culture. She is currently pursuing her Ph.D. degree, which is sponsored through the University of Plymouth, UK titled "Genetic Counselling in the Turkish Cypriot community". She is dedicated to increasing awareness about genetic conditions and genetic counselling, within her community. She penned a weekly column titled "Genetics Today" at one of the main newspapers in North Cyprus from 20004 until 2017. Over the years, she has been continuosly involved in various civil society activities aimed at increasing the quality of care and life of patients and families at risk of or affected by genetic conditions in Cyprus.
Pembe Savas obtained her undergraduate degree in Medical Biochemistry from University of Leicester, UK in 2011 and further received an MSc degree in Reproductive Science and Women?s Health at University College London, UK in 2012. She has completed her project on pre-implantation genetic diagnosis of beta-thalassaemia at Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, in 2012, where she gained hands-on laboratory experience. Since 2013, Pembe Savas is working as a senior instructor at the Department of Biological Sciences, Eastern Mediterranean University, Famagusta, Cyprus, where she is responsible for teaching numerous modules for the Molecular Biology and Genetics program; including Human Genetics. Her research interests include genetic testing in common complex diseases. Furthermore, since 2017 she has been actively involved in the Cyprus Women's Health Research Initiative.
Seniye Targen obtained her undergraduate degree in Human Genetics from Newcastle University, UK, in 2009 and further specialized in the field of Human Molecular Genetics at Imperial College London, United Kingdom, in 2010, where she completed a project on X-linked cataract and Nance-Horan Syndrome. Upon completing her graduate degree, she has gained experience in private medical diagnostic laboratories. She had been employed as a laboratory instructor in the Department of Biological Sciences at the Eastern Mediterranean University, Famagusta, Cyprus, from 2013 to 2015. Currently, she is working towards a Ph.D. degree in molecular biology and genetics department with a particular focus on breast cancer biology at Bilkent University, Ankara, Turkey.
Yagmur Esemen is currently working as a Foundation Year Two Doctor at Charing Cross Hospital, London, UK. In 2013, she completed her undergraduate degree in Neuroscience and Biology with honors at Lawrence University, WI, USA. As an undergraduate, she has been involved in various research projects in the fields of neuroscience, molecular biology and genetics. In 2011, she spent a summer at Mayo Clinics, Rochester, MN, USA studying the effects of Bro1 family members on Vps4 activity. Her senior thesis, completed in 2013, was on investigating the neural targets of DAF-19 in C. elegans, which was awarded Summa Cum Laude honours. She has received several awards including the Howard and Helen Russell Award for Excellence in Biological Sciences. Between 2013-2014, she worked as a laboratory instructor at the Department of Biological Sciences, Eastern Mediterranean University, Famagusta, Cyprus. She obtained her Bachelor of Medicine, Bachelor of Surgery degree with distinction from St. George's University of London, UK in 2018. Since then, she has been working as a foundation doctor in the North West Thames Foundation School in UK.
Esra Asilmaz is currently a Locum Consultant in Gastroenterology and General Internal Medicine at Homerton University Hospital in London, UK. She obtained her Ph.D. degree in Molecular Genetics from The Rockefeller University, NYC, USA in 2004. She subsequently obtained her Bachelor of Medicine, Bachelor of Surgery degree in 2009 from St. George's University of London, UK. Between 2009-2011, she completed an Academic Foundation Programme at St. Thomas' and Guy's Hospital, London, UK. During this time, she worked at Professor Trembath's Laboratory of Human Genetics and was involved in the identification of Notch2 mutations in Hadju-Cheney Syndrome, a rare genetic condition. She was an Academic Clinical Fellow at University College Hospital, London, UK between 2011-2014 and was a member of Dr. Oben's laboratory at The Institute of Liver and Digestive Health. She obtained her MRCP (UK) Diploma in 2014 and Specialist Examination in Gastroenterology in 2016. She obtained her CCT in Gastroenterology and General Internal Medicine in September 2019.
Turem Delikurt is a registered genetic counsellor. She graduated with a BSc in Biology from the University of South Dakota, USA in 2003. She completed her MSc in Genetic Counselling with a merit from the University of Manchester, UK in 2006. She has been working as a genetic counsellor in Cyprus since 2006. In 2015, she was registered by the European Board of Medical Genetics. Her main research interest is the exploration of genetic counselling in the context of culture. She is currently pursuing her Ph.D. degree, which is sponsored through the University of Plymouth, UK titled "Genetic Counselling in the Turkish Cypriot community". She is dedicated to increasing awareness about genetic conditions and genetic counselling, within her community. She penned a weekly column titled "Genetics Today" at one of the main newspapers in North Cyprus from 20004 until 2017. Over the years, she has been continuosly involved in various civil society activities aimed at increasing the quality of care and life of patients and families at risk of or affected by genetic conditions in Cyprus.
Pembe Savas obtained her undergraduate degree in Medical Biochemistry from University of Leicester, UK in 2011 and further received an MSc degree in Reproductive Science and Women?s Health at University College London, UK in 2012. She has completed her project on pre-implantation genetic diagnosis of beta-thalassaemia at Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, in 2012, where she gained hands-on laboratory experience. Since 2013, Pembe Savas is working as a senior instructor at the Department of Biological Sciences, Eastern Mediterranean University, Famagusta, Cyprus, where she is responsible for teaching numerous modules for the Molecular Biology and Genetics program; including Human Genetics. Her research interests include genetic testing in common complex diseases. Furthermore, since 2017 she has been actively involved in the Cyprus Women's Health Research Initiative.
Seniye Targen obtained her undergraduate degree in Human Genetics from Newcastle University, UK, in 2009 and further specialized in the field of Human Molecular Genetics at Imperial College London, United Kingdom, in 2010, where she completed a project on X-linked cataract and Nance-Horan Syndrome. Upon completing her graduate degree, she has gained experience in private medical diagnostic laboratories. She had been employed as a laboratory instructor in the Department of Biological Sciences at the Eastern Mediterranean University, Famagusta, Cyprus, from 2013 to 2015. Currently, she is working towards a Ph.D. degree in molecular biology and genetics department with a particular focus on breast cancer biology at Bilkent University, Ankara, Turkey.
Yagmur Esemen is currently working as a Foundation Year Two Doctor at Charing Cross Hospital, London, UK. In 2013, she completed her undergraduate degree in Neuroscience and Biology with honors at Lawrence University, WI, USA. As an undergraduate, she has been involved in various research projects in the fields of neuroscience, molecular biology and genetics. In 2011, she spent a summer at Mayo Clinics, Rochester, MN, USA studying the effects of Bro1 family members on Vps4 activity. Her senior thesis, completed in 2013, was on investigating the neural targets of DAF-19 in C. elegans, which was awarded Summa Cum Laude honours. She has received several awards including the Howard and Helen Russell Award for Excellence in Biological Sciences. Between 2013-2014, she worked as a laboratory instructor at the Department of Biological Sciences, Eastern Mediterranean University, Famagusta, Cyprus. She obtained her Bachelor of Medicine, Bachelor of Surgery degree with distinction from St. George's University of London, UK in 2018. Since then, she has been working as a foundation doctor in the North West Thames Foundation School in UK.
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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