Explains the basics of the human genome in seven clear and concise "Lectures."

Makes an ideal text for science, medical, and nursing students, practicing physicians and nurses, and all others who need a readable overview of human genetics.

Brief book can be read in a few sittings.

Provides a broad basic understanding of how the human genome works.

Lecture 1. Natural history of the human genome

General aspects of the genome
What’s in a gene
Repetitive DNA
Tandemly repetitive sequences
Dispersed repetitive sequences
Chromatin
Gene expression
Transcription
RNA processing
Translation

Lecture 2. The mechanisms of mutation: how the human genome changes

Spontaneous mutations
Mutations arising during DNA replication
Effects of changes in base sequence on gene expression
Mutation by transposable elements
Mutations that are errors in recombination
Chromosomal mutations
Induced mutations
The human mutation rate

Lecture 3. Genetic diseases: the consequences of mutation

Mendelian inheritance of autosomal genes
Mendelian inheritance of X and Y chromosome genes
From Mendel to genes
Linkage analysis
Positional analysis
On beyond Mendel: complex inheritance
Genomic imprinting

Lecture 4. The human genome and medical practice

Genetic screening
Newborn genetic screening
Adult genetic screening
Ethical and legal aspects of genetic screening
Therapy of genetic disorders
Nutritional therapies
Protein replacement therapies
Cell and tissue replacement therapies
Gene therapy
Pharmacogenomics

Lecture 5. The mitochondrial genome and mitochondrial disorders

General aspects of mitochondrial function and genetics
Mitochondrial genetic diseases
Disease attributable to mutations in mitochondrial DNA 
Mitochondrial diseases and nuclear DNA mutations
Mitochondria and aging
Therapy of mitochondrial diseases

Lecture 6. The genetic basis of cancer

Oncogenes
Tumor suppressor genes
Loss of growth control
The cell cycle
Programmed cell death
Sources of genomic instability
Epigenetic changes in cancer

Lecture 7. The human genome and developmental biology

Pre-natal developmental genetics
Transcription factors and early development
Organogenesis
Complex inheritance of developmental abnormalities
Genomic disorders
Genetics of aging
A look ahead

• "Historically, genetics has been a student’s worse nightmare. This book by Professor Ed McConkey should change all that. Drawing on many years of experience teaching genetics, the author knows just how to say things to make this complex subject understandable. Part of the “trick” is to concentrate on the concepts rather than on the boring details. Equally important, this text is “disease-centered,” so the reader never loses sight of the real reason for studying this topic: understanding the genetic basis of human disease. I wish I had had this book when I was learning genetics!"

  —Lauren Sompayrac, PhD
  Retired Professor
  Department of Molecular, Cellular, and Developmental Biology
  University of Colorado
  Boulder, CO

  How The Human Genome Works…is a basic and introductory genetics primer especially written for students of the health sciences. It is a meticulously accurate survey of the natural history of the human genome, including mechanisms of mutation, genetic diseases, the role of the genome in medical practice, and so much more, which will prove fascinating and accessible to non-specialist general readers with an interest in human genetics as well. An excellent scientific instructional, explicit in its point-by-point detail, How The Human Genome Works is a superb introduction to one of the most inherently fascinating and quickly evolving of the biological sciences today.

   

  —The Midwest Book Review

  "Manages to be both accessible and sophisticated. A brief and accessible introduction to current human molecular genetics."

  —Lawrence I. Grossman
  Professor and Interim Director
  Center for Molecular Medicine & Genetics
  Wayne State University School of Medicine
  Detroit, MI

  “Seven lectures in this slender volume explain what the human genome is, what it does, and its implications in health and disease.  McConkey conveys the essential known information about genes and gene expression, mutations and disorders, and medical applications.  Particular attention is given to genetic diseases, mitochondria disorders, cancer, and developmental biology.

   

  —Book News