Genetics for Nurses

Description

Cover Contents Foreword Preface Acknowledgements About the Author Chapter 1: Practical Application of Genetics in Nursing and Roles of a Nurse Roles of a Nurse Career Focus Review Question Chapter 2: Review of Cellular Division: Mitosis and Meiosis Introduction to Prokaryotic and Eukaryotic Cell Shape Size Number Cell wall Plasma membrane Cytoplasm Nucleus Cell Division An Overview of the Cell Cycle The Mechanics of Cell Division An overview of the M phase Cytoskeletal machines perform both mitosis and cytokinesis Two mechanisms help ensure that mitosis always precedes cytokinesis Mitosis in Detail Prophase Prometaphase Metaphase Anaphase Telophase Cytokinesis Meiosis Introduction Meiosis I Interphase I Prophase I Leptotene Zygotene Pachytene Diplotene Diakinesis Metaphase I Anaphase I Telophase I Meiosis II Interphase II Prophase II Metaphase II Anaphase II Review Questions Chapter 3: Structure and Organization of Genetic Material Characteristics and Structure of DNA and Chromosomes—DNA Packaging and Chromosome Condensation Structure of chromosomes Chromosomal DNA and its packaging in the chromatin fibre Eukaryotic DNA is packaged into a set of chromosomes Nucleosomes are the basic unit of eukaryotic chromosome structure Forms of chromosomes—metacentric, submetacentric, and acrocentric Chromosomes and Sex Determination XX–XY sex determination in humans The role of sex chromosomes in phenotype and fertility Review Questions Chapter 4: Errors in Transmission Overview of Chromosome Morphology Types of chromosome mutations Structural chromosomal abnormalities Chromosome rearrangements Duplications Deletions Inversions Translocations Numerical chromosomal abnormalities Aneuploidy Types of Aneuploidy Aneuploidy in humans Polyploidy Chromosome mutations and cancer Review Questions Chapter 5: Classical Genetics: Mendelian Theory of Inheritance Principles of Genetics: Mendelian Principles Early life of Johann Gregor Mendel (1822–1884) Mendel’s Experimental Organism: the Pea Plant Mendel’s Experiment: Monohybrid and Dihybrid Crosses Monohybrid cross Mendel’s conclusions from the monohybrid cross Dihybrid cross and the principle of independent assortment Review Questions Chapter 6: Patterns and Mechanisms of Inheritance in Humans Pedigree Patterns of Inheritance in Humans Autosomal dominant inheritance Autosomal recessive inheritance X-linked dominant inheritance X-linked recessive inheritance Y-linked inheritance Mitochondrial inheritance Multifactorial inheritance Review Questions Chapter 7: 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 Questions Chapter 8: Prenatal Nutrition Maternal Nutritional Status Nutritional supplementation during pregnancy Physiological changes during pregnancy Nutritional requirements during pregnancy Food Allergies Symptoms Some common food allergies Diagnostic test available for food allergies Review Questions Chapter 9: Conditions Affecting the Mother Infections During Pregnancy Bacterial infections Group B beta-hemolytic streptococci (GBS) Group A beta-hemolytic streptococcus (Streptococcus pyogenes) Listeria monocytogenes Haemophilus influenzae Escherichia coli Viral infections Rubella Cytomegalovirus Herpes simplex virus Effect of Drugs, Chemicals and Radiation Effect of drugs Anticonvulsant drugs Phenytoin Carbamazepine Valproic acid Antidepressants Lithium Isotretinoin Coumarin derivatives Effects of alcohol Spontaneous abortion and stillbirths Low birth weight Neurobehavioural and neural abnormality Neural development Prevention Effect of chemicals Effects of radiation Radiobiology Effects of ionizing radiation in pregnancy Maternal Drug Therapy Review Questions Chapter 10: Genetic Testing and Diagnosis Newborn Screening Heterozygote Screening Presymptomatic Testing Prenatal Genetic Testing and Diagnosis Indications for Prenatal Diagnosis (PND) Methods of Prenatal Diagnosis Principles of Screening Tests Non-invasive Testing Ultrasound diagnosis of foetal anomalies Maternal serum screening Triple screening Foetal cell sorting Invasive Testing Amniocentesis Chorionic villus sampling Cordocentesis Preimplantation genetic diagnosis Review Questions Chapter 11: Impact of Genetic Condition on Families and Genetic Counselling Impact of Genetic Condition on Families Genetic Counselling Genetic services (Counselling and genetic diagnostic testing) Presymptomatic testing Carrier testing Prenatal testing Review Questions Chapter 12: Consanguinity Consanguineous Marriage and Risk of Inheriting Genetic Disorder Review Questions Chapter 13: Advanced Maternal Age Aneuploidies and Advanced Maternal Age Older egg model: In advanced maternal age Trisomy Monosomy Mosaicism Autosomal Aneuploidies Trisomy 21 (Down syndrome) Trisomy 18 (Edwards syndrome) Trisomy 13 (Patau syndrome) Sex Chromosome Aneuploidies Monosomy X (Turner syndrome) 47,XXY (Klinefelter syndrome) Review Questions Chapter 14: Down Syndrome (Trisomy 21) Overview 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 Prenatal screening and diagnosis Review Questions Chapter 15: Infertility Factors Affecting Fertility Causes of Subfertility—Male and Female Subfertility Male Subfertility Clinical assessment Treatment options for subfertile men Female Subfertility Chromosomal Diagnosis of anovulatory subfertility Management of anovulation Tubal subfertility Causes of tubal damage Diagnosis of tubal subfertility Endometriosis Fibroids Assisted Reproductive Techniques Review Questions Chapter 16: Spontaneous Abortion Definition Pathophysiology Potential causes of spontaneous pregnancy loss Mechanism of Abortion Incidence Clinical Types of Abortion Threatened abortion Inevitable abortion Treatment Incomplete abortion Treatment Complete abortion Treatment Missed abortion Treatment Septic abortion Treatment Risk of Recurrent Pregnancy Loss Factors Involved in Recurrent Early Pregnancy Loss Foetal death or disease Genetic Factors Skewed X chromosome inactivation (XCI) Premature centromeric division Non-genetic Factors Anatomical factors Endocrine factors Infectious factors Nutritional causes Immunological factors Miscellaneous Factors Maternal factors Male factors Indian Scenario Detection of recurrent abortions Investigation for recurrent pregnancy loss Review Questions Chapter 17: Congenital Abnormalities, Dysmorphism, and Developmental Delay Congenital Abnormalities (Birth Defects) and Dysmorphology Clinical Dysmorphology—Classification of Foetal and Birth Defects Malformation Deformation Disruption Dysplasia Diagnostic Approach to the Dysmorphic Foetus Single-system defect Syndrome Sequence/cascade Teratology Environmental risk parameters or modifiers Basic Principles of Teratology Developmental Milestones Normal development Developmental delay Diagnosis Identification Developmental disorders Learning disability (LD) Attention deficit hyperactivity disorder (ADHD)—Behavioural disorder Review Questions Chapter 18: 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 Review Questions Chapter 19: The Nature of Cancer Cancer as a Genetic Disease The clonal evolution of tumours The role of environment in cancer Genes that contribute to cancer DNA Repair Genes Genes affecting chromosome segregation Sequences that regulate telomerase Genes that promote vascularization and the spread of tumours Chromosome Mutations and Cancer The Molecular Genetics of Colorectal Cancer Review Questions Chapter 20: Inborn Errors of Metabolism Classification of Inherited Metabolic Diseases Enzyme Defects (Aminoacidopathies) Defects in Purine Metabolism (Lesch Nyhan Syndrome) Lysosomal Storage Diseases Tay Sach’s disease Mucopolysaccharidoses Chapter 21: Haematological Disorders and Genetic Haemochromatosis Haemoglobinopathies Haemolytic anemias—Sickle cell disease Thalassemia Alpha thalassemias Beta thalassemias Genetic Haemochromatosis (GH) Review Questions Chapter 22: Mental Illness/Mental Disorder Normal Mental Health Diagnosis Management options Review Questions Chapter 23: The Human Genome Project Institutes Involved Supported by Budget Goals (Adapted from the Human Genome Project Report) Milestones Samples Vectors Used Sequencing Shot gun sequencing Findings (Adapted from the Human Genome Project Report) Current Applications Ethical, Social and Legal Implications Review Questions Chapter 24: Gene Therapy Types Classification Based on Type of Therapy Gene augmentation Gene inhibition Classification Based on the Method of Therapy Exvivo therapy In vivo therapy Vectors Used Retrovirus Adenovirus Adeno-associated virus Non-viral Vector Systems Special Gene Therapy Strategies Review Questions Chapter 25: Eugenics Movement Positive and Negative Eugenics Review Questions Chapter 26: 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 Review Questions Case Studies Case Study 1 Case Study 2 Diagnosis Treatment and management Case Study 3 Case Study 4 Case Study 5 Case Study 6 Case Study 7 Case Study 8 Case Study 9 Case Study 10 Illustrations Index