Emery and Rimoin's principles and practice of medical genetics and genomics. Foundations / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody.

Format:

Book

Contributor:

Pyeritz, Reed E., editor.

Korf, Bruce R., editor.

Grody, Wayne W., editor.

Language:

English

Subjects (All):

Medical genetics.

Genre:

Electronic books.

Physical Description:

1 online resource

Edition:

Seventh edition.

Other Title:

Foundations

Principles and practice of medical genetics and genomics

Place of Publication:

London, United Kingdom : Academic Press, an imprint of Elsevier, [2019].

System Details:

text file

Contents:

1 Medicine in a Genetic and Genomic Context p. 1 / Reed E. Pyeritz

1.1 Introduction: Our History p. 1

1.2 The Principles of Disease p. 2

1.3 Defining Disease p. 4

1.4 The "How" Questions p. 5

1.5 The "Why" Questions p. 12

1.6 Prevention and Treatment p. 15

2 Foundations and Application of Precision Medicine p. 21 / Geoffrey S. Ginsburg and Susanne B. Haga

2.1 Overview of Precision Medicine p. 21

2.2 Precision Medicine Applications Across the Lifespan and Clinical Specialties p. 22

2.3 Precision Drug Development p. 25

2.4 Precision Medicine Research p. 29

2.5 The Practice of Precision Medicine p. 30

3 Mature and Frequency of Genetic Disease p. 47 / Bruce R. Korf and Reed E. Pyeritz and Wayne W. Grody

3.2 Frequency of Genetic Disease p. 47

3.3 Morbidity and Mortality Due to Genetic Disease p. 50

4 Genome and Gene Structure p. 53 / Madhuri R. Hegde and Michael R. Crowley

4.1 Introduction: Composition of the Nuclear Human Genome p. 53

4.2 Double Helix Structure, DNA Replication, Transcription, and Meiotic Recombination p. 55

4.3 Organization of Genomic DNA p. 57

4.4 Structure of Genes (Transcriptional Units): Exons and mRNA p. 65

4.5 Translation of RNA Into Protein p. 71

5 Epigenetics p. 79 / Rosanna Weksberg and Darci T. Butcher and Cheryl Cytrynbaum and Michelle T. Siu and Sanaa Choufani and Benjamin Tycko

5.2 Epigenetic Mechanisms: Chromatin, Histone Modifications, DNA Methylation, and Long Noncoding RNAs p. 80

5.3 Epigenetic Reprogramming p. 83

5.4 Epigenetic Regulation of X Inactivation p. 84

5.5 Genomic Imprinting p. 86

5.6 Genetic Disorders Caused by Mutations in Epigenes p. 93

5.7 Methods for Studying Epigenetic Marks p. 97

5.8 Cancer Epigenetics p. 98

5.9 Environmental Influences on the Epigenome p. 101

5.10 Interactions Between the Genome and the Epigenome p. 104

5.11 The Future of Epigenomics p. 105

6 Human Genomic Variants and Inherited Disease: Molecular Mechanisms and Clinical Consequences p. 125 / Stylianos E. Antonarakis and David N. Cooper

6.2 Molecular Mechanisms of Variants Causing Human Inherited Disease p. 126

6.3 Disease-Causing Variants p. 130

6.4 Consequences of Mutations p. 149

6.5 General Principles of Genotype-Phenotype Correlations p. 168

6.6 Why Study Mutation? p. 170

7 Genes in Families p. 201 / Jackie Cook

7.2 Pedigree Construction p. 201

7.3 Unifactorial Inheritance/Single-Gene Disorders p. 202

7.4 Dominance and Recessiveness p. 203

7.5 Autosomal Dominant Inheritance p. 206

7.6 Autosomal Recessive Inheritance p. 210

7.7 Sex-Linked Inheritance p. 213

7.8 Partial Sex Linkage p. 218

7.9 Nontraditional Inheritance p. 219

7.10 Chromosomal Disorders p. 222

7.11 Polygenic and Multifactorial Inheritance p. 223

7.12 Isolated Cases p. 224

8 Analysis of Genetic Linkage p. 227 / Rita M. Cantor

8.1 Introduction to Linkage Analysis p. 227

8.2 Linkage Analysis: Basic Concepts p. 228

8.3 Extending Parametric Linkage Analysis p. 231

8.4 Linkage Analysis for Complex and Quantitative Traits p. 233

8.5 Linkage Analysis: Future Directions p. 235

9 Chromosomal Basis of Inheritance p. 237 / Fady M. Mikhail

9.2 Chromosome Structure p. 237

9.3 Chromosomes in Cell Division p. 239

9.4 Methods for Studying Human Chromosomes p. 244

9.5 Functional Organization of Chromosomes p. 254

9.6 Sex Chromosomes and Sex Determination p. 256

9.7 Uniparental Disomy and Imprinting p. 259

9.8 Chromosome Abnormalities p. 260

10 Mitochondrial Biology and Medicine p. 267 / Douglas C. Wallace and Marie T. Lott and Vincent Procaccio

10.2 Mitochondrial Biochemistry p. 268

10.3 Mitochondrial Genetics p. 270

10.4 mtDNA and Human Origins p. 273

10.5 mtDNA Coded Mitochondrial Diseases p. 274

10.6 nDNA Coded Mitochondrial Diseases p. 284

10.7 Mitochondrial Etiology of Complex Diseases p. 285

10.8 Diagnosis of Mitochondrial Diseases p. 305

10.9 Metabolic Therapies of Mitochondrial Diseases p. 306

10.10 Genetic Therapies of Mitochondrial Diseases p. 307

11 Multifactorial Inheritance and Complex Diseases p. 323 / Allison Fialkowski and T. Mark Beasley and Hemant K. Tiwari

11.2 Determining the Genetic Component of a Trait p. 326

11.3 The International HapMap Project p. 330

11.4 Genome-Wide Association Studies p. 331

11.5 Imputation p. 333

11.6 Association Methods/Statistical Analysis p. 334

11.7 Analysis of Rare Variants Using New Technologies p. 337

11.8 Statistical Fine Mapping of Genome-Wide Association Studies Data Sets to Determine Causal Variants p. 338

11.9 Transethnic Meta-Analysis p. 338

11.10 Other Data Types and Their Analysis Methods p. 339

11.11 Future Directions/Integration p. 343

12 Population Genetics p. 359 / H. Richard Johnston and Bronya J.B. Keats and Stephanie L. Sherman

12.2 Hardy-Weinberg Law p. 359

12.3 Factors That Affect Hardy-Weinberg Equilibrium p. 364

12.4 Applications in Population Genetics p. 370

13 Pathogenetics of Disease p. 375 / Reed F. Pyeritz

13.2 The Scope of Abnormal Phenotypes: Susceptibilities, Diseases, and Malformations p. 376

13.3 Development of Anatomic Structures: Angular Homeostasis p. 377

13.4 Pathogenetics of Refined Traits p. 379

13.5 Pathways and Multiple-Stage Processes p. 379

13.6 Molecular Pathogenetics p. 381

14 Twins and Twinning p. 387 / Mark P. Umstad and Lucas Calais-Ferreira and Katrina J. Scurrah and Judith G. Hall and Jeffrey M. Craig

14.2 Typical Twinning in Humans p. 388

14.3 Atypical Twinning p. 389

14.4 Placentation p. 391

14.5 Incidence of Twins p. 392

14.6 Sex Ratio in MZ Twinning p. 392

14.7 Structural Defects in Twins p. 392

14.8 Zygosity Determination p. 393

14.9 The Etiology of Twinning p. 395

14.10 Genetic and Epigenetic Differences Within Pairs of MZ Twins p. 398

14.11 Twin Research: Designs and Analytic Approaches p. 400

14.12 Twin Registries and International Collaboration p. 403

15 The Biological Basis of Aging: Implications for Medical Genetics p. 415 / Junko Oshima and Fuki M. Hisama and George M. Martin

15.2 What is Aging? p. 415

15.3 Why do We Age? p. 419

15.4 How do We Age? p. 424

15.5 Progeroid Syndromes of Humans p. 429

15.6 Pro-Longevity Loci and "Antigeroid" Syndromes p. 434

16 Pharmacogenomics p. 445 / Daniel W. Nebert and Ge Zhang

16.2 Fundamental Aspects of Clinical Pharmacology p. 446

16.3 History of Genetics Relevant to PGx p. 450

16.4 Early PGx Examples p. 454

16.5 Pharmacogenomics p. 463

16.6 Response to Drugs Other Than Genotype of the Patient p. 470

16.7 FDA Recommendations for PGx Genotyping p. 473.

Notes:

Includes index.

Online resource; title from PDF title page (ScienceDirect, viewed November 29, 2018).

ISBN:

9780128126851

012812685X

OCLC:

1076269081

Access Restriction:

Restricted for use by site license.