Cover image for How the human genome works
How the human genome works
McConkey, Edwin H.
Personal Author:
Publication Information:
Sudbury, Mass. : Jones and Bartlett Publishers, [2004]

Physical Description:
118 pages : illustrations ; 28 cm
General Note:
Includes index.
Natural history of the human genome -- The mechanisms of mutation: how the human genome changes -- Genetic diseases: the consequences of mutation -- The human genome and medical practice -- The mitochondrial genome and mitochondrial disorders -- The genetic basis of cancer -- The human genome and developmental biology.
Format :


Call Number
Material Type
Home Location
Item Holds
QH447 .M353 2004 Adult Non-Fiction Non-Fiction Area-Oversize

On Order



The Essential Genetics Primer! This unique text explains the basics of the human genome: what it is, what it does, and its implications in health and disease. In seven clear and concise "Lectures," Dr. McConkey conveys the essentials of what we know about genes and gene expression, how mutations lead to simple and complex disorders, and how the rapid advance in our understanding of the human genome is impacting the practice of medicine.How the Human Genome Works will be useful for people in the health sciences at all levels, from students to established professionals, who want to update their knowledge about human genetics without making a major time commitment. This brief book, which can be read in a few sittings, will provide you with a broad basic understanding of this complex topic. It is the ideal text for science, medical, and nursing students, practicing physicians and nurses, and all others who need a readable overview of human genetics.

Author Notes

Edwin H. McConkey, Ph.D.: Professor Emeritus, Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder

Table of Contents

Lecture 1 Natural History of the Human Genomep. 1
General Aspects of the Genomep. 1
What's in a Gene?p. 4
Repetitive DNAp. 6
Chromatinp. 8
Gene Expressionp. 9
Lecture 2 The Mechanisms of Mutation: How the Human Genome Changesp. 19
Spontaneous Mutationsp. 19
Induced Mutationsp. 29
The Human Mutation Ratep. 30
Lecture 3 Genetic Diseases: The Consequences of Mutationp. 35
Mendelian Inheritance of Autosomal Genesp. 35
Mendelian Inheritance of X and Y Chromosome Genesp. 39
From Mendel to Genesp. 41
On Beyond Mendel: Complex Inheritancep. 45
Genomic Imprintingp. 49
Lecture 4 The Human Genome and Medical Practicep. 53
Genetic Screeningp. 53
Therapy of Genetic Disordersp. 58
Lecture 5 The Mitochondrial Genome and Mitochondrial Disordersp. 69
Mitochondrial Genetic Diseasesp. 72
Lecture 6 The Genetic Basis of Cancerp. 79
Oncogenesp. 80
Tumor-Suppressor Genesp. 84
Loss of Growth Controlp. 86
Lecture 7 The Human Genome and Developmental Biologyp. 95
Prenatal Developmental Geneticsp. 96
Genetics of Agingp. 101
A Look Aheadp. 102
Glossaryp. 107
Indexp. 113