Genetics for Nurses, Second Edition
Deepa Parvathi
Contents
Foreword
Preface
About the Author
Nature, Principles and Perspectives of Heredity
Introduction
Career Focus
Introduction to Prokaryotic and Eukaryotic Cell
Cell Division
An Overview of the Cell Cycle
The Mechanics of Cell Division
Mitosis in Detail
Meiosis
Characteristics and Structure of DNA and Chromosomes—DNA Packaging and Chromosome
Condensation
Chromosomes and Sex Determination
Overview of Chromosome Morphology
Principles of Genetics: Mendelian Principles
Mendel’s Experimental Organism: The Pea Plant
Mendel’s Experiment: Monohybrid and Dihybrid Crosses
Pedigree
Patterns of Inheritance in Humans
Multiple Alleles and Blood Groups
The ABO Blood Group
Function of IA, IB and I Alleles of The ABO Gene
Other Genetic Systems That Exhibit Multiple Allelism
Review Question
Maternal, Prenatal and Genetic Influences on Development of Defects and Diseases
Infections During Pregnancy
Consanguinity Atopy
Consanguineous Marriage and Risk of Inheriting Genetic Disorder
Prenatal Nutrition
Maternal Nutritional Status
Food Allergies
Aneuploidies and Advanced Maternal Age
Autosomal Aneuploidies
Sex Chromosome Aneuploidies
Maternal Drug Therapy
Prenatal Genetic Testing and Diagnosis
Indications for Prenatal Diagnosis (PND)
Methods of Prenatal Diagnosis
Principles of Screening Tests
Non-invasive Testing
Invasive Testing
Effect of Drugs, Chemicals and Radiation
Infertility
Factors Affecting Fertility
Causes of Subfertility—Male and Female Subfertility
Male Subfertility
Female Subfertility
Assisted Reproductive Techniques
Spontaneous Abortion
Pathophysiology
Mechanism of Abortion
Incidence
Clinical Types of Abortion
Risk of Recurrent Pregnancy Loss
Factors Involved in Recurrent Early Pregnancy Loss
Genetic Factors
Non-genetic Factors
Miscellaneous Factors
Indian Scenario
Neural Tube Defects
Screening of NTD with Maternal Serum Alpha-Fetoprotein (AFP)
Ultrasound Evaluation of NTDs
Prevention of NTD
Genetic Susceptibility for NTD and Folic Acid Intake
Fortification During Pregnancy
Down Syndrome (Trisomy 21)
Genetics of Down Syndrome
Advanced Maternal Age in Down Syndrome
Characteristic Features/Phenotype of Down Syndrome
Medical Conditions Associated with Down Syndrome
Down Syndrome Management
Down Syndrome Diagnosis
Review Questions
Screening Methods for Genetic Defects and Diseases in Neonates and Children
Newborn Screening
Heterozygote Screening
Presymptomatic Testing
Congenital Abnormalities (Birth Defects) and Dysmorphology
Clinical Dysmorphology—Classification of Foetal and Birth Defects
Diagnostic Approach to the Dysmorphic Foetus
Teratology
Basic Principles of Teratology
Developmental Milestones
Review Questions
Genetic Disorders in Adolescents and Adults
Cancer as a Genetic Disease
DNA Repair Genes
Chromosome Mutations and Cancer
The Molecular Genetics of Colorectal Cancer
Inborn Errors of Metabolism
Classification of Inherited Metabolic Diseases
Enzyme Defects (Aminoacidopathies)
Defects in Purine Metabolism (Lesch Nyhan Syndrome)
Lysosomal Storage Diseases
Genetic Haemochromatosis (GH)
Huntington’s Disease
Deregulation in Protein Pathways
NRSE Mediated Pathway
Therapeutic Modalities for Management of HD
Mental Health
Suggested Reading
Review Questions
Role of Nurse in Genetic Services and Counselling
Types of Gene Therapy
Classification Based on Type of Therapy
Classification Based on the Method of Therapy
Vectors Used
Non-Viral Vector Systems
Special Gene Therapy Strategies
Impact of Genetic Condition on Families
Genetic Counselling
Legal and Ethical Issues
Ethical Issues in Prenatal Diagnosis (Adapted from WHO Guidelines on Ethical Issues in Medical
Genetics)
Ethical Issues in Genetic Testing of Children
Privacy of Genetic Information and Its Misuse
Role of a Nurse
Review Questions
Annexure 1
Annexure 2: Rare Genetic Disorders
Case Studies
Index
Illustrations