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.
Author(s): Bahar Taneri; Esra Asilmaz; Türem Delikurt; Pembe Savas; Seniye Targen; Yagmur Esemen
Publisher: Wiley-VCH Verlag GmbH
Year: 2020
Language: English
Pages: xviii+142
Cover
Title Page
Copyright
Contents
About the Authors
Introduction
Chapter 1 Exploring Online Genetics Sources
Background
Human Genome Project
National Center for Biotechnology Information (NCBI)
UCSC Genome Browser
The Encyclopedia of DNA Elements (ENCODE)
Roadmap Epigenomic Project
References
Exercise Questions
Additional Exercise Questions
Chapter 2 Observation of Human Inheritance
Background
Mendelian Genetics
The Transmission of Hereditary Characteristics
Mendelian Disorders
References
Exercise Questions
Additional Exercise Questions
Chapter 3 Reading, Understanding, and Constructing Human Pedigrees
Background
Basic Pedigree Nomenclature
Modes of Inheritance
Autosomal Recessive Inheritance
Pedigrees Representing Autosomal Recessive Inheritance
Autosomal Dominant Inheritance
Pedigrees Representing Autosomal Dominant Inheritance
X‐Linked Recessive Inheritance
Pedigrees Representing X‐Linked Recessive Inheritance
X‐Linked Dominant Inheritance
Pedigrees Representing X‐Linked Dominant Inheritance
Y‐Linked Inheritance
Pedigrees Representing Y‐Linked Inheritance
Non‐Mendelian Patterns of Inheritance
Confounding Factors in Pedigree Generation and Interpretation
References
Exercise Questions
Additional Exercise Questions
Chapter 4 Cytogenetics
Background
Generation of Karyograms/Chromosome Banding
FISH, Fluorescent In Situ Hybridization
Comparative Genomic Hybridization (CGH) and Array‐Based CGH Technology
Chromosomal Abnormalities
Numerical Chromosomal Abnormalities
Structural Chromosomal Abnormalities
References
Exercise Questions
Additional Exercise Questions
Chapter 5 Exploring DNA, RNA, and Protein Sequence Databases and Genome Browsers
Background
General Biological Databases
RNA‐Specific Databases
Protein‐Specific Databases
Regulatory DNA Database
Genome Browsers
References
Exercise Questions
Additional Exercise Questions
Chapter 6 Exploring Online Bioinformatics Tools
Background
BLAST
ExPASy
Clustal Omega
Reactome
References
Exercise Questions
Additional Exercise Questions
Chapter 7 Multifactorial Inheritance and Common Complex Diseases
Background
Polygenic Complex Diseases
Investigating Complex Traits
Obesity as a Complex Disease
Diabetes Mellitus Type 2 as a Complex Disease
Coronary Artery Diseases as Complex Diseases
References
Exercise Questions
Additional Exercise Questions
Chapter 8 Neurogenetics and Behavioral Genetics
Background
Genetic Regulation of Neural Development
Structure and Function of the Nervous System
Understanding the Genetics of Neurological Disease
Examples of Neurogenetic Disorders
Huntington's Disease
Parkinson's Disease
Rett Syndrome
Behavioral Genetics
Genetics of Depression
Genetics of Drug Addiction
Genetics of Schizophrenia
References
Exercise Questions
Additional Exercise Questions
Chapter 9 Cancer Genetics
Background
Cell Cycle and Its Regulation
Oncogenes and Tumor Suppressor Genes
Carcinogens/Environmental Factors in Cancer
Breast Cancer
Role of Molecular Medicine in Breast Cancer Treatment
Recent Advances in Cancer Diagnosis and Treatment
References
Exercise Questions
Additional Exercise Questions
Chapter 10 Genetic Counseling
Background
References
Exercise Questions
Additional Exercise Questions
Chapter 11 Evolving Tools in Genome Editing: CRISPR‐Cas
Background
Mechanism of CRISPR‐Cas9 System
Applications of CRISPR‐Cas9 System
Generation of Animal Models and Engineering Cells
Somatic Genome Editing
Repair of Genetic Disorders
Functional Genomic Screening
Treatment of Infectious Diseases
Other Applications of CRISPR‐Cas9 System
References
Acknowledgment
Exercise Questions
Additional Exercise Questions
Glossary
Index
EULA
