Genetics for nurses / V. Deepa Parvathi.

Format:

Book

Author/Creator:

Parvathi, V. Deepa.

Series:

Always Learning.

Pearson always learning

Language:

English

Subjects (All):

Medical genetics.

Nursing--Study and teaching--India.

Nursing.

Physical Description:

1 online resource (1 v.) : ill.

Edition:

1st edition

Place of Publication:

New Delhi, India : Pearson, 2012.

System Details:

text file

Summary:

Genetics for Nurses has been designed considering the syllabi requirements laid down by the Indian Nursing Council and the leading nursing colleges. The book has a variety of case studies and review questions to support the theoretical concepts and is an unique offering to the undergraduate students of nursing.

Contents:

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

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

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

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

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

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

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

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

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

Chapter 12: Consanguinity

Consanguineous Marriage and Risk of Inheriting Genetic Disorder

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)

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

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

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

Complete abortion

Missed abortion

Septic abortion

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

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

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

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

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)

Chapter 22: Mental Illness/Mental Disorder

Normal Mental Health

Management options

Chapter 23: The Human Genome Project.

Institutes Involved.

Notes:

Description based on online resource; title from PDF title page (Safari, viewed Jan. 24, 2013).

ISBN:

9788131798577

8131798577

OCLC:

826646990