Genetics for Nurses, Second Edition PDF by Deepa Parvathi

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Genetics for Nurses, Second Edition

Deepa Parvathi

Genetics for Nurses

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

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