
Emery Elementos De Genetica Medica By Peter Turnpenny.pdfl
Emery Elementos De Genetica Medica By Peter Turnpenny.pdf: A Comprehensive Review
Genetics is one of the most fascinating and rapidly evolving fields of medicine. It is also one of the most challenging and complex subjects to master. Whether you are a student, a clinician, or a researcher, you need a reliable and up-to-date guide to help you navigate the world of genes, chromosomes, DNA, and inheritance.
That's where Emery Elementos De Genetica Medica By Peter Turnpenny.pdf comes in handy. This book is a Spanish translation of the 14th edition of Emery's Elements of Medical Genetics, a classic textbook that has been widely used and acclaimed for over three decades. It is written by Peter Turnpenny, a professor of medical genetics at the University of Exeter, UK, and Sian Ellard, a professor of genomic medicine at the same institution.
In this article, we will review the main features and benefits of this book, as well as its strengths and limitations. We will also answer some frequently asked questions about this book and its topics. By the end of this article, you will have a clear idea of what this book can offer you and whether it is suitable for your needs.
Introduction
Emery Elementos De Genetica Medica By Peter Turnpenny.pdf is a comprehensive and user-friendly introduction to medical genetics. It covers the basic principles of human genetics, as well as their applications in medicine and clinical practice. It also addresses the ethical, social, and legal aspects of genetics in medicine.
The book is divided into three main sections: Principles of Human Genetics, Genetics in Medicine, and Clinical Genetics. Each section consists of several chapters that cover specific topics in depth. The book also includes a glossary, a list of websites and clinical databases, multiple-choice and case-based questions, and answers.
The book is designed to help students and professionals learn and understand the fundamentals of genetics and how they relate to human health and disease. It is also intended to help them prepare for exams and clinical scenarios that involve genetics. The book uses a clear and concise language, a logical and consistent structure, and a wealth of illustrations, diagrams, tables, and clinical photographs to enhance learning and understanding.
Principles of Human Genetics
The first section of the book covers the basic concepts and mechanisms of genetics. It explains how genes are inherited, expressed, and regulated, as well as how they interact with each other and with the environment. It also describes the structure and function of chromosomes, DNA, RNA, and proteins, as well as the methods and tools used to study them.
Some of the topics covered in this section are:
The history and scope of medical genetics
The cell cycle and mitosis
Meiosis and gametogenesis
Mendelian inheritance and pedigree analysis
Non-Mendelian inheritance and complex traits
Chromosome abnormalities and cytogenetics
DNA structure and replication
RNA synthesis and processing
Protein synthesis and modification
Gene regulation and epigenetics
Genetic variation and polymorphism
Population genetics and Hardy-Weinberg equilibrium
Genetic linkage and mapping
This section also provides many examples of genetic diseases and disorders that illustrate the principles of human genetics. Some of these are:
Cystic fibrosis
Sickle cell anemia
Hemophilia
Huntington's disease
Down syndrome
Klinefelter syndrome
Turner syndrome
Fragile X syndrome
Prader-Willi syndrome
Angelman syndrome
Rett syndrome
Achondroplasia
Marfan syndrome
Neurofibromatosis type 1
Tuberous sclerosis
Familial hypercholesterolemia
Polygenic traits such as height, weight, blood pressure, etc.
This section also shows how genetics can be applied to medicine in various ways. Some of these are:
Predicting the risk of developing or transmitting a genetic condition
Diagnosing a genetic condition based on clinical features or molecular tests
Treating a genetic condition with pharmacological or gene-based therapies
Preventing a genetic condition with prenatal diagnosis or screening, preimplantation genetic diagnosis, or gene editing
Counseling patients and families about the implications of a genetic condition or test result
Educating patients and families about the nature and inheritance of a genetic condition or test result
Supporting patients and families with the psychological and social aspects of living with a genetic condition or test result
Genetics in Medicine
The second section of the book covers the topics of molecular genetics, genetic testing, and gene therapy. It explains how genes can be identified, analyzed, manipulated, and modified using various techniques and technologies. It also discusses the ethical, social, and legal issues that arise from these applications.
Some of the topics covered in this section are:
DNA sequencing and genomics
DNA fingerprinting and forensics
DNA microarrays and expression profiling
RNA interference and gene silencing
Cancer genetics and oncogenes
Pharmacogenetics and personalized medicine
Gene therapy and gene editing
Ethical principles and frameworks in medical genetics
Informed consent and confidentiality in genetic testing
Social implications of genetic testing for individuals, families, communities, and populations
Legal aspects of genetic testing such as discrimination, liability, regulation, etc.
This section also helps students prepare for exams and clinical practice with multiple-choice and case-based questions at the end of each chapter. These questions test the students' knowledge, understanding, application, analysis, synthesis, evaluation, and problem-solving skills in relation to genetics in medicine