Medical Genetics 6th Edition by Lynn Jorde, John Carey, Michael Bamshad – Ebook PDF Instant Download/Delivery: 0323596541, 9780323596541
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ISBN 10: 0323596541
ISBN 13: 9780323596541
Author: Lynn Jorde, John Carey, Michael Bamshad
Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more – all designed to enhance effective learning and retention of complex material.
Medical Genetics 6th Table of contents:
1. Background and History
What Is Medical Genetics?
Why Is a Knowledge of Medical Genetics Important for Today’s Health-Care Practitioner?
A Brief History
Types of Genetic Diseases
The Clinical Impact of Genetic Disease
Assessment
2. Basic Cell Biology: Structure and Function of Genes and Chromosomes
DNA, RNA, and Proteins: Heredity at the Molecular Level
The Structure of Genes and the Genome
Assessment
3. Genetic Variation: Its Origin and Detection
Mutation: The Source of Genetic Variation
Detection and Measurement of Genetic Variation
Genetic Variation in Populations
Assessment
4. Autosomal Dominant and Recessive Inheritance
Basic Concepts of Formal Genetics
Autosomal Dominant Inheritance
Autosomal Recessive Inheritance
Factors That Affect Expression of Disease-Causing Genes
Consanguinity in Human Populations
Assessment
5. Sex-Linked and Nontraditional Modes of Inheritance
X. Inactivation
Sex-Linked Inheritance
Sex-Limited and Sex-Influenced Traits
Mitochondrial Inheritance
Genomic Imprinting
Assessment
6. Clinical Cytogenetics: The Chromosomal Basis of Human Disease
Cytogenetic Technology and Nomenclature
Abnormalities of Chromosome Number
Chromosome Abnormalities and Pregnancy Loss
Abnormalities of Chromosome Structure
Chromosome Abnormalities and Clinical Phenotypes
Cancer Cytogenetics
Chromosome Instability Syndromes
Assessment
7. Biochemical Genetics: Disorders of Metabolism
Variants of Metabolism
Defects of Metabolic Processes
Assessment
8. Disease-Gene Identification
Gene Mapping
Physical Mapping and Cloning
Gene Mapping by Association: Genome-Wide Association Studies
Exome and Whole-Genome Sequencing
Assessment
9. Immunogenetics
The Immune Response: Basic Concepts
Immune Response Proteins: Genetic Basis of Structure and Diversity
The Major Histocompatibility Complex
Immunodeficiency Diseases
Assessment
10. Genetic Basis of Development
Development
Genetic Mediators of Development: The Molecular Toolbox
Pattern Formation
Assessment
11. Cancer Genetics
Causes of Cancer
Cancer Genes
Major Classes of Cancer Genes
Identification of Inherited Cancer-Causing Genes
Inherited Breast Cancer
The Evolving Genetic Landscape of Cancer
Assessment
12. Multifactorial Inheritance and Common Diseases
Principles of Multifactorial Inheritance
Nature and Nurture: Disentangling the Effects of Genes and Environment
The Genetics of Common Diseases
Some General Principles and Conclusions
Assessment
13. Genetic Testing and Gene Therapy
Population Screening for Genetic Disease
Molecular Tools for Screening and Diagnosis
Prenatal Diagnosis of Genetic Disorders and Congenital Defects
Fetal Treatment
Gene Therapy
Assessment
14. Genetics and Precision Medicine
A Technology-Driven Transformation
The Impact of Genomics
Precision Medicine Initiatives
The Future of Predictive Medicine
15. Clinical Genetics and Genetic Counseling
The Principles and Practice of Clinical Genetics
Dysmorphology and Clinical Teratology
Bioethics and Medical Genetics
Answers to Study Questions
Index
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Lynn Jorde,John Carey,Michael Bamshad,Medical Genetics