Human Genetics and Genomics

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Das erste Laborhandbuch der Humangenetik. Jedes Kapitel behandelt eine Praxiseinheit. Die Themen reichen von den Grundlagen des menschlichen Erbgutes über die Genetik von Krankheiten, webbasierte Ressourcen, Bioinformatik und Individualmedizin bis hin zur genetischen Beratung.

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. Curre...


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


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 Que...

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Human Genetics and Genomics
A Practical Guide
eBook (pdf)
Génétique, génie génétique
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