An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases

, by Jack J. Pasternak (Univ. of Waterloo, Ontario, Canada)

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ISBN: 9781891786037 | 1891786032
Cover: Hardcover
Copyright: 1/1/1999

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This text is targeted at upper-level undergraduate students, graduate students, and medical students. It is also an excellent reference for researchers and physicians who need a clinically relevant reference for the molecular genetics of inherited human diseases.

Preface

PART I Fundamentals of Genetics

(80)

Understanding Human Disease

(18)

Human Genetic Disease

(3)

Human Genetics from 1900 to 1957

(8)

Eugenics: Genetics Misinterpreted

(2)

The Molecularization of Genetics

(2)

Genes and Phenotypes

(2)

from the human genetics files OMIM: An Important Online Source of Information about Human Genetic Disorders

(2)

key terms

(1)

summary

(1)

references

(1)

review questions

(2)

The Genetic System: Chromosomes

(20)

Human Chromosomes

(5)

Maintaining the Chromosome Number

(1)

Cell Division Cycle: The Mitotic Process

(3)

The Meiotic Process

(2)

Characterizing Human Chromosomes

(4)

Chromosome Abnormalities

(7)

Whole Chromosome Changes: Aneuploidy

(1)

Chromosome Structural Changes

(2)

from the human genetics files Discovering the Phases of the Cell Cycle

(4)

key terms

(1)

summary

(1)

references

(1)

review questions

(1)

The Genetic System: Mendel's Laws of Inheritance and Genetic Linkage

(40)

Dominance, Recessiveness, and Segregation

(3)

Independent Assortment

(3)

Genetic Linkage

(4)

Constructing Genetic Maps

(4)

Three-Point Cross

(3)

Chi-Square Distribution: Testing for Significance

(3)

Multiple Alleles

(1)

Human Genetics

(10)

Autosomal Dominant Inheritance

(1)

Autosomal Recessive Inheritance

(3)

X-Linked Inheritance

(1)

Using Pedigrees to Study Human Genetic Disorders

(4)

Detection and Estimation of Genetic Linkage in Humans

(1)

from the human genetics files Genetic Counseling

(1)

The Logarithm of the Likelihood Ratio Method of Linkage Analysis: LOD Score

(5)

Allele-Sharing Tests for Detecting Linkage

(1)

key terms

(1)

summary

(1)

references

(1)

review questions

(2)

PART II Principles of Human Molecular Genetics

(146)

The Molecular Biology of the Gene

(34)

Properties of Genetic Material

(1)

Structure of DNA

(3)

DNA Replication

(2)

Decoding Genetic Information: RNA and Protein

(4)

Translation

(5)

Regulation of mRNA Transcription

(3)

Nucleotide Sequence Alteration: Mutation

101

(3)

from the human genetics files Hemoglobinopathies and Thalassemias: An Abundance of Mutations

102

(2)

Mutations of Structural Genes

104

(5)

Nomenclature for Mutations

109

(2)

Dominant Mutations and Genetic Disorders

111

(2)

key terms

113

(1)

summary

113

(1)

references

114

(1)

review questions

115

(2)

Recombinant DNA Technology

117

(42)

Restriction Endonucleases

118

(4)

Cloning Vectors

122

(5)

Plasmid Cloning Vector pUC19

124

(3)

Screening DNA Constructs by DNA Hybridization

127

(3)

In situ Hybridization

130

(1)

Chemical Synthesis of DNA

131

(2)

Sequencing DNA

133

(4)

Polymerase Chain Reaction

137

(4)

Human-Rodent Somatic Cell Hybrids

141

(3)

Human DNA Libraries

144

(11)

Genomic Libraries

144

(3)

Chromosome DNA Libraries

147

(1)

Chromosome DNA Libraries from a Human Genome YAC Library

147

(2)

Chromosome Libraries from Flow-Sorted Chromosomes and Monochromosomal Hybrid Cell Lines

149

(1)

from the human genetics files Multicolor Karyotyping: Coloring Chromosomes

150

(3)

Region-Specific Chromosome Libraries

153

(1)

Constructing a cDNA Library

153

(2)

key terms

155

(1)

summary

155

(2)

references

157

(1)

review questions

158

(1)

Genetic and Physical Mapping of the Human Genome

159

(46)

Genetic Mapping of Human Chromosomes

160

(15)

Genetic Polymorphism

160

(1)

Restriction Fragment Length Polymorphism

160

(4)

Short Tandem Repeat Polymorphism

164

(2)

Mapping of a Genetic Disease Locus to a Chromosome Location

166

(4)

Multilocus Mapping of Human Chromosomes

170

(4)

Inserting a Disease Gene into a Linkage Map

174

(1)

Homozygosity Mapping

175

(2)

Linkage Disequilibrium Mapping

177

(4)

Radiation Hybrid Mapping

181

(4)

Physical Mapping of the Human Genome

185

(10)

Assembling Contigs from YAC, BAC, and PAC Libraries

185

(6)

Assembling Contigs from Cosmid, P1, and Lambda Libraries

191

(3)

from the human genetics files Single-Nucleotide Polymorphisms: The Next Generation of Genetic Markers

194

(1)

Transcriptional Mapping

195

(1)

Integration of Cytogenetic, Genetic, and Physical Maps

196

(1)

The Human Genome Project

197

(3)

Ethical, Legal, and Social Implications

198

(2)

key terms

200

(1)

summary

200

(1)

references

201

(2)

review questions

203

(2)

Discovering Human Disease Genes

205

(22)

Detection of Mutations in Human Genes

206

(11)

Single-Strand Conformational Analysis

206

(1)

Denaturing Gradient Gel Electrophoresis

207

(3)

Heteroduplex Analysis

210

(2)

Chemical Mismatch Cleavage

212

(2)

Direct DNA Sequencing

214

(1)

from the human genetics files Genomic Analyses Using DNA Microarrays

214

(1)

Protein Truncation Test

215

(2)

Cloning Human Disease Genes

217

(8)

Functional Gene Cloning

217

(1)

Candidate Gene Cloning

218

(1)

Positional Gene Cloning

219

(5)

Positional-Candidate Gene Cloning

224

(1)

key terms

225

(1)

summary

225

(1)

references

226

(1)

review questions

226

(1)

PART III Molecular Genetics of Diseases and Disorders

227

(224)

Molecular Genetics of Muscle Disorders

229

(28)

Structure of Skeletal Muscle

230

(2)

Dystrophin and Associated Muscle Proteins

232

(1)

Cardiac and Smooth Muscle

233

(1)

Studying Inherited Muscle Disorders

233

(1)

Duchenne Muscular Dystrophy

234

(6)

Discovering the DMD Gene

235

(4)

Dystrophin and Mutations of the DMD Gene

239

(1)

Limb-Girdle Muscular Dystrophy

240

(1)

Congenital Muscular Dystrophy

241

(2)

Dilated Cardiomyopathy

243

(2)

Hypertrophic Cardiomyopathy

245

(2)

Facioscapulohumeral Muscular Dystrophy

247

(1)

Emery-Dreifuss Muscular Dystrophy

248

(1)

Myotubular Myopathy

249

(3)

from the human genetics files Detecting Gene Mutations

250

(2)

Nemaline Myopathy

252

(1)

key terms

252

(1)

summary

253

(1)

references

254

(2)

review questions

256

(1)

Molecular Genetics of Neurological Disorders

257

(50)

Neurons

258

(2)

Nonneuronal Cells of the Nervous System

260

(1)

Resting Membrane Potential

260

(1)

Initiation, Propagation, and Synaptic Transmission of a Nerve Impulse

261

(3)

Parts of the Brain

264

(3)

Alzheimer Disease

267

(9)

Biochemistry of Senile Plaques and Neurofibrillary Tangles

268

(3)

Genetics of Alzheimer Disease

271

(1)

Mutations of the Amyloid Precursor Protein Gene

271

(2)

Mutations in the Presenilin Genes

273

(1)

Genetic Risk Factors for Alzheimer Disease

274

(2)

Huntington Disease and Other Trinucleotide Repeat Expansion Diseases

276

(8)

Amyotrophic Lateral Sclerosis

284

(2)

Charcot-Marie-Tooth Disease

286

(4)

from the human genetics files Genetically Engineered Animal Models for Studying Inherited Human Disorders

288

(2)

Inherited Prion Diseases

290

(3)

Schizophrenia

293

(6)

Genetic Analysis of Schizophrenia and Other Complex Traits

295

(2)

Possible Genes and Chromosome Loci for Schizophrenia

297

(2)

Bipolar Affective Disorder

299

(1)

Alcoholism

300

(1)

key terms

301

(1)

summary

302

(2)

references

304

(2)

review questions

306

(1)

Molecular Genetics of the Eye

307

(38)

Human Visual System

308

(5)

Structure of the Eye

308

(3)

Phototransduction: Conversion of Radiant Energy into Nerve Impulses

311

(2)

Studying the Molecular Basis of Inherited Disorders of the Human Eye

313

(1)

Genetic Disorders of the Human Eye

313

(18)

Corneal Dystrophies

313

(1)

from the human genetics files Searching for the Genetic Basis of Myopia

314

(1)

Glaucoma

315

(3)

Aniridia

318

(2)

Cataracts

320

(4)

Retinitis Pigmentosa

324

(5)

Congenital Stationary Night Blindness

329

(1)

Choroideremia

330

(1)

Color-Vision Defects

331

(6)

Isolation of Human Rhodopsin and Color Opsin Genes

332

(1)

Molecular Genetics of Red and Green Color-Vision Defects

333

(3)

Blue Cone Monochromacy

336

(1)

Blue Color--Vision Defect

337

(1)

Rod Monochromacy

337

(1)

key terms

337

(1)

summary

338

(1)

references

339

(4)

review questions

343

(2)

Molecular Genetics of Mitochondrial Disorders

345

(20)

Mitochondria and Oxidative Phosphorylation

345

(4)

Mitochondrial Genetics

349

(3)

from the human genetics files Revelations from the Grave: Using Mitochondrial DNA Analysis to Resolve Historical Mysteries

350

(2)

Mitochondrial Disorders

352

(5)

Myoclonus Epilepsy and Ragged-Red Fibers (MERRF)

352

(1)

Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes (MELAS)

353

(2)

Leber Hereditary Optic Neuropathy (LHON)

355

(1)

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP)

356

(1)

Kearns-Sayre Syndrome (KSS)

356

(1)

Nuclear-Encoded Mitochondrial Disorders

357

(4)

Mitochondrial Protein Importation Defects

357

(1)

Substrate Transport Defects

358

(1)

Substrate Utilization Defects

358

(1)

Iron Transport Defect

359

(1)

Electron Transport Chain Defect

359

(1)

Mitochondrial DNA Defects

360

(1)

key terms

361

(1)

summary

361

(1)

References

362

(1)

review questions

363

(2)

Molecular Genetics of Cancer Syndromes

365

(52)

Cell Proliferation and Cancer

366

(16)

Signal Transduction Pathway for Cell Proliferation

367

(4)

Regulation of the Cell Division Cycle

371

(3)

Apoptosis: Programmed Cell Death

374

(1)

Tumor Metastasis

374

(2)

Oncogenes

376

(4)

Alteration of Oncogenes in Cancer Cells

380

(1)

Tumor Suppressor Genes

380

(2)

Neurofibromatoses

382

(3)

Neurofibromatosis Type 1

382

(2)

Neurofibromatosis Type 2

384

(1)

Breast Cancer

385

(2)

Von Hippel-Lindau Syndrome

387

(3)

Retinoblastoma

390

(2)

from the human genetics files Philadelphia Chromosome, Two-Hit Hypothesis, and Comparative Genomic Hybridization

390

(2)

Wilms Tumor

392

(1)

Multiple Endocrine Neoplasia Type 1

393

(1)

Multiple Endocrine Neoplasia Type 2

393

(3)

Li-Fraumeni Syndrome

396

(2)

Colorectal Cancer

398

(7)

Familial Adenomatous Polyposis

399

(2)

Hereditary Nonpolyposis Colorectal Cancer

401

(4)

Ataxia-Telangiectasia

405

(1)

Bloom Syndrome

406

(3)

Fanconi Anemia

409

(2)

Xeroderma Pigmentosum

411

(1)

key terms

412

(1)

summary

413

(1)

references

413

(3)

review questions

416

(1)

Human Gene Therapy

417

(34)

Ex Vivo Gene Therapy

421

(5)

In Vivo Gene Therapy

426

(1)

Viral Gene Delivery Systems

426

(7)

Retrovirus Vector System

426

(1)

Adenovirus Vector System

427

(2)

Adeno-Associated Virus Vector System

429

(1)

Herpes Simplex Virus Vector System

430

(3)

Nonviral Gene Delivery Systems

433

(4)

from the human genetics files Some of the Social Implications of Human Gene Therapy

436

(1)

Prodrug-Activation Therapy

437

(2)

Nucleic Acid Therapeutic Agents

439

(8)

In Vivo Antisense RNA

441

(1)

Antisense Oligonucleotides

441

(2)

Nucleic Acid Pharmaceuticals

443

(1)

Ribozymes

444

(1)

Oligonucleotide Correction of Genetic Conditions

445

(2)

key terms

447

(1)

summary

447

(1)

references

448

(2)

review questions

450

(1)

Glossary

451

(32)

Index

483

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An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases

Summary

Author Biography

Table of Contents

Supplemental Materials