Table of contents for Medical genetics for the modern clinician / Judith A. Westman.

Bibliographic record and links to related information available from the Library of Congress catalog.

Note: Contents data are machine generated based on pre-publication provided by the publisher. Contents may have variations from the printed book or be incomplete or contain other coding.


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Contents
Color Insert
Preface
Chapter 1
Genetics in the Practice of Medicine
From Genetics to Genomics
	Molecular Genetics
 Human Genome Project
 Consequences of the Human Genome Project
Genetics and Preventive Medicine
Ethical Issues in Medical Genetics
 Eugenics
 Other Issues Involving Genetic Discrimination
USMLE-Style Questions
Chapter 2
DNA Structure, Function, and Replication: A Review
Basic Structure of DNA
Tertiary Structure of DNA
Mitochondrial DNA
Cell Cycle
 Interphase
 Mitosis
Meiosis
USMLE-Style Questions
Chapter 3
Cytogenetics: Microscopic Genetics
Chromosome Morphology, Nomenclature, and Karyotyping
Techniques in Molecular Cytogenetics
Numerical Chromosomal Abnormalities
 Polyploidy
 Aneuploidy
 Autosomal Trisomies
 Aneuploidy of the Sex Chromosomes
Structural Abnormalities
 Reciprocal Translocations
 Robertsonian Translocations
 Inversions
 Deletions and Duplications
Mosaicism
	Somatic Mosaicism
 Confined Placental Mosaicism
Prenatal Clinical Techniques in Cytogenetics
 Amniocentesis
 Chorionic Villus Sampling
 Cordocentesis
USMLE-Style Questions
Chapter 4
Molecular Genetics: Gene Structure, Organization, and Control
Gene Structure
From Gene to Product
 Transcription and Transcription Factors
 Processing mRNA
 Alternative Splicing
 Translation
 Posttranslational Modification and Localization
Genome Organization
 Repeated Elements
 Single-Nucleotide Polymorphisms
 Satellites, Minisatellites, and Microsatellites
 Gene Families
 Mitochondrial Genome
Epigenetics
 Methylation
 X Inactivation
 Mechanism
 Significance
 Parent-of-Origin Effects: Genetic Imprinting
 Uniparental Disomy
 Disorders Caused by Disruptions of Parent-of-Origin Effects
Clinically Relevant Laboratory Techniques
 Polymerase Chain Reaction
 Sequencing
 Denaturing High-Performance Liquid Chromatography
 Microarray Analysis
USMLE-Style Questions
Chapter 5
Changes and Repair at the Molecular DNA Level
Mutations
 Types of Mutations
 Causes of Mutations
 Germline Versus Somatic Location
 Phenotypic Expression of Mutations
 Loss-of-Function Mutations
 Gain-of-Function Mutations
DNA Repair Mechanisms
Base Excision Repair
Nucleotide Excision Repair
Mismatch Repair
Recombination Repair
USMLE-Style Questions
Chapter 6
Mendelian Inheritance: Observation of Phenotypes
Pedigree Construction
Inheritance Patterns
Autosomal Dominant Inheritance
Autosomal Recessive Inheritance
X-linked Recessive Inheritance
X-linked Dominant Inheritance
Y-linked Inheritance
Genetic Counseling
Risk Assessment Based on Pedigree Analysis
Hardy-Weinberg Equilibrium
Theory
Application
Prenatal Diagnosis of Mendelian Disorders
USMLE-Style Questions
Chapter 7
Unexpected Phenotypes in Mendelian Disorders: Molecular Explanations
Variations in Dominant Phenotypes
Penetrance
Variable Expressivity
De Novo Mutations
Mosaicism
Genetic Heterogeneity
Phenocopy
Parent-of-Origin Effect
Variations in Recessive Phenotypes
Frequently Occurring Alleles
Founder Populations
Gene Expression Level
Consanguinity
Variations in X-linked Phenotypes
Frequently Occurring Alleles
Male Lethality
Mitochondrial Inheritance
False Paternity
USMLE-Style Questions
Chapter 8
Cancer Genetics
Genes and Cancer
Multistep Evolution in Cancer
Cancer Risk Assessment Counseling
Oncogenes
Amplification
Chromosomal Translocations
Hereditary Syndromes of Oncogenes
Tumor Suppressor Genes
Knudson Hypothesis
Hereditary Syndromes of Tumor Suppressor Genes
Retinoblastoma
Familial Adenomatous Polyposis
Hereditary Nonpolyposis Colorectal Cancer Syndrome
Hereditary Breast/Ovarian Cancer Syndrome
USMLE-Style Questions
Chapter 9
Complex Diseases
Threshold Model
Modifier Genes
Tools for Study of Complex Diseases
Twins Studies
Linkage Studies
Association Studies
Congenital Complex Diseases
Hirschsprung Disease
Neural Tube Defects
Adult-Onset Complex Diseases
Cardiovascular Disease
Diabetes Mellitus
Alzheimer Disease
USMLE-Style Questions
Chapter 10
Developmental Genetics
Dysmorphology
Embryological Development and Control Mechanisms
Early Development
Transcription Factors
	HOX Genes
	TBX Genes
	GATA Genes
Induction and Morphogens
 Sex Differentiation and Intersex Conditions
USMLE-Style Questions
Chapter 11
Individualized Medicine
Pharmacogenomics
Cytochrome P450 Family and Diversity
Gene Expression Microarrays
Individualized Drug Therapies
Disease Susceptibility
USMLE-Style Questions
Chapter 12
Gene Therapy
Viral Vectors
	Retroviral Vectors
	Adenoviral Vectors
	Adeno-associated Viral Vectors
Nonviral Vectors
USMLE-Style Questions
Appendix A
Answers to USMLE-Style Questions
Appendix B
Glossary
Appendix C
Table of Genes Referenced

Library of Congress Subject Headings for this publication:

Medical genetics.
Genetics, Medical.