12 copies

Introduction to the human genome -- The human genome: gene structure and function -- Human genetic diversity: mutation and polymorphism -- Principles of clinical cytogenetics and genome analysis -- The chromosomal and genomic basis of disease: disorders of the autosomes and sex chromosomes -- Patterns of single-gene inheritance -- Complex inheritance of common multifactorial disorders -- Genetic variation in populations -- Identifying the genetic basis for human disease -- The molecular basis of genetic disease : general principles and lessons from the hemoglobinopathies -- The molecular, biochemical, and cellular basis of genetic disease -- The treatment of genetic disease -- Developmental genetics and birth defects -- Cancer genetics and genomics -- Risk assessment and genetic counseling -- Prenatal diagnosis and screening -- Application of genomics to medicine and personalized health care -- Ethical and social issues in genetics and genomics.

Medical Genetics

MDCN126, MDCN226

1 Introduction

3 Introduction to the Human Genome

21 The Human Genome Gene Structure and Function

43 Human Genetic Diversity Mutation and Polymorphism

57 Principles of Clinical Cytogenetics and Genome Analysis

75 The Chromosomal and Genomic Basis of Disease: Disorders of the Autosome and Sex Chromosome

107 Patterns of Single-Gene Inheritance

133 Complex Inheritance of Common Multifactorial Disorders

155 Genetic Variation in Populations

171 Identifying the Genetic Basis for Human Disease

195 The Molecular Basis of Genetic Disease

215 The Molecular Biochemical and Cellular Basis of Genetic Disease

257 The Treatment of Genetic Disease

283 Developmental Genetics and Both Defects (With the assistance of Anthony Wynshaw-Boris MD.PhD

309 Cancer Genetics and Genomics

333 Risk Assessment and Genetic Counseling

349 Prenatal Diagnosis and Screening

369 Application of Genomics to Medicine and Personalized Health Care

383 Ethical and Social Issues in Genetics and Genomics

533 Index