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ABC of Clinical Genetics 3rd Edition by Helen M Kingston ISBN 0727916270 9780727916273

  • SKU: BELL-2004476
ABC of Clinical Genetics 3rd Edition by Helen M Kingston ISBN 0727916270 9780727916273
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ABC of Clinical Genetics 3rd Edition by Helen M Kingston ISBN 0727916270 9780727916273 instant download after payment.

Publisher: BMJ Books
File Extension: PDF
File size: 2.53 MB
Pages: 120
Author: Helen M. Kingston
ISBN: 9780585393889, 9780727916273, 0585393885, 0727916270
Language: English
Year: 2002
Edition: 3

Product desciption

ABC of Clinical Genetics 3rd Edition by Helen M Kingston ISBN 0727916270 9780727916273 by Helen M. Kingston 9780585393889, 9780727916273, 0585393885, 0727916270 instant download after payment.

ABC of Clinical Genetics 3rd Edition by Helen M Kingston - Ebook PDF Instant Download/Delivery: 0727916270, 9780727916273
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ISBN 10: 0727916270 
ISBN 13: 9780727916273
Author: Helen M Kingston

This ABC is a concise, highly illustrated introduction to genetic mechanisms involved in inherited disorders. The new edition has been extensively updated with new and revised chapters to encompass rapid advances in the field. Basic genetic concepts are explained along with the application of new technologies in clinical practice. Information on relevant web sites are also included along with recommended texts for further reading.

ABC of Clinical Genetics 3rd Table of contents:

Part I: Basic Principles of Human Genetics

Chapter 1: The Genetic Blueprint

  • 1.1 The Structure of DNA, Genes, and Chromosomes
  • 1.2 Cell Division: Mitosis and Meiosis
  • 1.3 The Human Genome Project and Beyond

Chapter 2: Patterns of Inheritance

  • 2.1 Autosomal Dominant Inheritance
  • 2.2 Autosomal Recessive Inheritance
  • 2.3 X-linked and Mitochondrial Inheritance
  • 2.4 Understanding Pedigrees

Chapter 3: Genetic Variation and Mutation

  • 3.1 Types of Genetic Mutations (Single-nucleotide, Deletions, Insertions)
  • 3.2 Chromosomal Abnormalities (Aneuploidy and Structural Rearrangements)
  • 3.3 The Concept of Penetrance and Expressivity

Part II: Diagnostic Methods in Clinical Genetics

Chapter 4: Cytogenetics: Chromosomal Analysis

  • 4.1 Karyotyping
  • 4.2 Fluorescence In Situ Hybridization (FISH)
  • 4.3 Chromosomal Microarray Analysis (CMA)

Chapter 5: DNA-Based Testing

  • 5.1 Polymerase Chain Reaction (PCR) and Sanger Sequencing
  • 5.2 Next-Generation Sequencing (NGS): A Revolution in Diagnosis
  • 5.3 Whole Exome and Whole Genome Sequencing

Chapter 6: Biochemical and Functional Tests

  • 6.1 Screening for Inborn Errors of Metabolism
  • 6.2 Enzyme Assays and Functional Analysis

Part III: Major Genetic Disorders and Clinical Syndromes

Chapter 7: Chromosome Disorders

  • 7.1 Down Syndrome (Trisomy 21)
  • 7.2 Turner Syndrome (XO) and Klinefelter Syndrome (XXY)
  • 7.3 Other Trisomies and Deletion Syndromes

Chapter 8: Single-Gene Disorders

  • 8.1 Autosomal Dominant Conditions (e.g., Huntington's Disease, Marfan Syndrome)
  • 8.2 Autosomal Recessive Conditions (e.g., Cystic Fibrosis, Sickle Cell Disease)
  • 8.3 X-Linked Conditions (e.g., Duchenne Muscular Dystrophy, Fragile X Syndrome)

Chapter 9: Genetics in Cancer

  • 9.1 Hereditary Cancer Syndromes (e.g., BRCA1/BRCA2, Lynch Syndrome)
  • 9.2 Tumor Genetics and Targeted Therapies
  • 9.3 Genetic Testing in Cancer Management

Chapter 10: Neurological and Neuromuscular Disorders

  • 10.1 Genetics of Alzheimer's Disease and Parkinson's Disease
  • 10.2 Spinal Muscular Atrophy and Muscular Dystrophies

Chapter 11: Genetic Disorders of the Heart and Circulation

  • 11.1 Inherited Cardiomyopathies and Arrhythmias
  • 11.2 Hypercholesterolemia

Chapter 12: Inborn Errors of Metabolism

  • 12.1 Phenylketonuria (PKU) and Newborn Screening
  • 12.2 Lysosomal Storage Disorders

Part IV: Clinical Practice and Patient Management

Chapter 13: Genetic Counseling

  • 13.1 The Role of the Genetic Counselor
  • 13.2 Communication of Complex Information
  • 13.3 Risk Assessment and Support

Chapter 14: Prenatal and Pre-implantation Genetics

  • 14.1 Carrier Screening
  • 14.2 Non-Invasive Prenatal Testing (NIPT)
  • 14.3 Chorionic Villus Sampling (CVS) and Amniocentesis
  • 14.4 Pre-implantation Genetic Diagnosis (PGD)

Chapter 15: Ethical and Social Issues

  • 15.1 Privacy and Confidentiality of Genetic Information
  • 15.2 Direct-to-Consumer Genetic Testing
  • 15.3 Gene Editing and CRISPR Technology

Chapter 16: Genetic Therapies and Personalized Medicine

  • 16.1 Gene Therapy: Current Status and Future Promise
  • 16.2 Pharmacogenomics: Tailoring Drugs to Your Genes
  • 16.3 The Future of Clinical Genetics

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Tags: Helen M Kingston, Clinical, Genetics

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