Medical genetics / Lynn B. Jorde ... [and others].

Format:

Book

Contributor:

Jorde, Lynn B.

Language:

English

Subjects (All):

Medical genetics.

Genetic Diseases, Inborn--genetics.

Genetics, Medical.

Medical Subjects:

Genetic Diseases, Inborn--genetics.

Genetics, Medical.

Physical Description:

xii, 363 pages, 4 unnumbered pages of plates : illustrations (some color), portraits ; 28 cm

Edition:

Third edition.

Place of Publication:

St. Louis, Mo. ; London : Mosby, 2003.

Summary:

This is one of the few medical genetics texts on a 2-year revision cycle. It provides up-to-date information that can be read, retained, and applied with ease! The 3rd Edition covers pharmacogenomics, the societal implications of technologies, the Human Genome Project, cloning, genetic enhancement, and embryonic stem cell research, new tumor suppressor genes and oncogenes, and more. Mini-summaries, study questions, suggested readings, and a detailed glossary facilitate review of the material. Clinical relevance is demonstrated in over 230 photographs, illustrations, and tables as well as boxes containing patient/family vignettes. Its coverage includes ethical, legal, and social issues and clinical commentary on important genetic diseases. A companion web site offers continuing updates and a wealth of additional features.

Contents:

1 Background and History 1

Why Is a Knowledge of Medical Genetics Important for Today's Health Care Practitioner? 1

A Brief History 1

Types of Genetic Diseases 3

The Clinical Impact of Genetic Disease 4

2 Basic Cell Biology: Structure and Function of Genes and Chromosomes 6

DNA, RNA, and Proteins: Heredity at the Molecular Level 6

The Structure of Genes and the Genome 17

The Cell Cycle 22

3 Genetic Variation: Its Origin and Detection 29

Mutation: The Source of Genetic Variation 29

Detection and Measurement of Genetic Variation 41

4 Autosomal Dominant and Recessive Inheritance 57

Basic Concepts of Formal Genetics 57

Autosomal Dominant Inheritance 63

Autosomal Recessive Inheritance 65

Factors That May Complicate Inheritance Patterns 68

Consanguinity in Human Populations 83

5 Sex-Linked and Mitochondrial Inheritance 88

X Inactivation 88

Sex-Linked Inheritance 90

Sex-Limited and Sex-Influenced Traits 101

6 Clinical Cytogenetics: The Chromosomal Basis of Human Disease 107

Abnormalities of Chromosome Number 111

Chromosome Abnormalities and Pregnancy Loss 120

Abnormalities of Chromosome Structure 122

Chromosome Abnormalities and Clinical Phenotypes 130

Cancer Cytogenetics 132

Chromosome Instability Syndromes 133

7 Biochemical Genetics: Disorders of Metabolism 136

Variants of Metabolism 136

Defects of Metabolic Processes 139

Pharmacogenetics 155

8 Gene Mapping and Cloning 160

Physical Mapping and Cloning 174

9 Immunogenetics 193

Immune Response Proteins: Genetic Basis of Structure and Diversity 198

The Major Histocompatibility Complex 200

The ABO and Rh Blood Groups 205

Immunodeficiency Diseases 206

10 Developmental Genetics 209

Genetic Mediators of Development: The Molecular Toolbox 210

Pattern Formation 216

11 Cancer Genetics 228

Causes of Cancer 229

Major Classes of Cancer Genes 232

Identification of Inherited Cancer Genes 238

Molecular Basis of Cancer 246

Is Genetic Inheritance Important in Common Cancers? 246

12 Multifactorial Inheritance and Common Diseases 248

Principles of Multifactorial Inheritance 248

Nature and Nurture: Disentangling the Effects of Genes and Environment 255

The Genetics of Common Diseases 258

13 Genetic Testing and Gene Therapy 278

Population Screening for Genetic Disease 278

Molecular Tools for Screening and Diagnosis 284

Prenatal Diagnosis of Genetic Disorders and Congenital Defects 288

Fetal Treatment 295

Gene Therapy 296

14 Clinical Genetics and Genetic Counseling 305

The Principles and Practice of Clinical Genetics 305

Dysmorphology and Clinical Teratology 316

Bioethics and Medical Genetics 321.

Notes:

Includes bibliographical references and index.

ISBN:

0323020259

OCLC:

51109247