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

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The perfect resource for nursing students, as well as practicing nurses and physicians, this unique text explains the basics of the human genome: what it is, what it does, and its implications in health and disease.

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