Introduction
Open Genetics - Fall 2014
September, 2014 Version
The first edition of this book was produced in January, 2009 as instructional material for students in Biology 207 at the University of Alberta, and is released to the public for non-commercial use under the Creative Commons License (See below). Users are encouraged to make modifications and improvements to the book.
All text in the original edition was written by Michael Deyholos, Ph.D. Chapter 9 and portions of Chapters 2 and 3 in this edition were written by Mike Harrington, Ph.D. Additional content and editing by John Locke, Ph.D. and Mark Wolansky, M.Sc.
Photos and some diagrams were obtained from various, non-copyrighted sources, including Flickr, Wikipedia, Public Library of Science, and Wikimedia Commons. Photo attributions are listed in the legend with each image.
This work is licensed under the Creative Commons Attribution-Noncommercial-Share Alike 2.5 Canada License. To view a copy of this license, visit or send a letter to Creative Commons, 171 Second Street, Suite 300, San Francisco, California, 94105, USA.
Under the terms of the license, you are free:
- to Share — to copy, distribute and transmit the work
- to Remix — to adapt the work
Under the following conditions:
- Attribution. You must include the name of the original author in books or excerpts derived from this work.
- Non-commercial. You may not use this work for commercial purposes.
- Share Alike. If you alter, transform, or build upon this work, you may distribute the resulting work only under the same or similar licence to this one.
- For any reuse or distribution, you must make clear to others the licence terms of this work.
- Any of the above conditions can be waived if you get permission from the copyright holder.
- The author's moral rights are retained in this licence.
Image, Photo and Figure License Details:
The source of each figure is given at the end of the legend and includes the following:
CC: ADCreative Commons Attribution-No Derivative Works 2.0 Generic
CC: ANCreative Commons Attribution-Noncommercial 2.0 Generic
CC: ANDCreative Commons Attribution-Noncommercial-No Derivative Works2.0 Generic
CC: ASCreative Commons Attribution-Share Alike 2.0 Generic
EDUEducational use explicitly allowed by author, who retains copyright
GFDLPermission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License
PDPublic Domain because it was created by a US government agency or because the author has explicitly released it into the public domain.
BIBLIOGRAPHY
Alberts, B. et al. 2004."Molecular Biology of the Cell, fourth edition". Garland Science, New York
Felix Ratjen, GerdDöring, Cystic fibrosis, The Lancet, Volume 361, Issue 9358, 22 February 2003, Pages 681-689
Francis, Richard C. “Epigenetics”. 2011, Norton, NewYork.
Griffiths, A. J. F. et al. 2005. "Introduction to Genetic Analysis, eighth edition." W. H. Freeman and Company, New York
King, R. C. and W. D. Stansfield.1997. "A Dictionary of Genetics, fifth edition". Oxford University Press, Toronto
Lap-CheeTsui and RuslanDorfman The Cystic Fibrosis Gene: A Molecular Genetic Perspective Cold Spring HarbPerspect, February 2013;3
MendelWeb.
R. B. Blumberg, {August 1, 2012}. World Wide Web URL:
Online Mendelian Inheritance in Man, OMIM®.
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), {August 1, 2012}. World Wide Web URL:
Watson, J. D. et al. 2008. "Molecular Biology of the Gene, sixth edition" Pearson Education, Inc., San Franciso
Your Genes, Your Health
Dolan DNA Learning Center / Cold Spring Harbor Laboratory, {August 1, 2012}. World Wide Web URL:
Table of Contents
Chapter 1 Introduction and Overview
1.1 Overview
1.2 DNA is the genetic material
1.3 The structure of DNA
1.4 Genes are the basic units of inheritance
1.5 The function of genes
1.6 Thenuclear genome
1.7 Model organisms facilitate genetic advances
Chapter 2 Chromosomes, Mitosis, Meiosis
2.1 DNA is packaged into Chromatin
2.2 Mitosis
2.3 Meiosis
2.4 The cell cycle and changes in DNA content
2.5 KaryotypesDescribe Chromosome Number and Structure
2.6 Polyploidyarises from changes in whole sets of chromosomes
2.7 Endo-reduplication
2.8 Gene Balance
2.9 Organellar genomes
Chapter 3 Genetic Analysis of Single Genes
3.1 Mendel's first law
3.2 Relationships between genes, genotypes, and phenotypes
3.3 Biochemical basis of dominance
3.4 Crossing techniques used in classical genetics
3.5 Sex-linkage: an exception to Mendel's first law
3.6 Phenotypes may not be as expected from the genotype
3.7 Phenotypic ratios may not be as expected
Chapter 4 Mutation and Variation
4.1 Mutation and polymorphism
4.2 Origins of mutations
4.3 Genetic screening for mutations: forward genetics
4.4 Types of mutations
4.5 Some mutations may not have detectible phenotypes
4.6 Complementation tests and allelism
4.7 Example of human mutations
Chapter 5 Pedigrees and Populations
5.1 Pedigree analysis
5.2 Inferring the mode of inheritance
5.3 Sporadic and non-heritable diseases
5.4 Calculating probabilities
5.5 Population genetics
Chapter 6 Genetic Analysis of Multiple Genes
6.1 Dihybrid crosses
6.2 Epistasis and other gene interactions
6.3 Examples of multiple genes affecting one character
Chapter 7 Linkage & Mapping
7.1 Linkage
7.2 Recombination
7.3 Linkagereduces recombination frequency
7.4 Crossovers allow recombination of linked loci
7.5 Inferring recombination from genetic data
7.6 Genetic mapping
7.7 Mapping with three-point crosses
Chapter 8 Techniques of Molecular Biology
8.1 Isolating genomic DNA
8.2 Isolating or detecting a specific sequence by PCR
8.3 Cutting and pasting DNA: restriction digests and DNA ligation
8.4 Cloning DNA: plasmid vectors
8.5 DNA analysis: gel electrophoresis
8.6 DNA analysis: blotting and hybridization
8.7 Transgenic organisms
Chapter 9 Changes in Chromosome Number & Structure
9.1 Changes in chromosome number
9.2 Changes in chromosome structure
9.3 Chromosome abnormalities in humans
9.4 Diagnosing human chromosome abnormalities
Chapter 10 Molecular Markers & Quantitative Traits
10.1 Some variations in the genome affect complex traits
10.2 Origins of molecular polymorphisms
10.3 Classification and detection of molecular markers
10.4 Applications of molecular markers
10.5 Quantitative trait locus (QTL) analysis
Chapter 11 Genomics and Systems Biology
11.1 'Omics technologies
11.2 DNA sequencing
11.3 Whole genome sequencing
11.4 Functional genomics – determining functions(s)
Chapter 12 Regulation of Gene Expression
12.1 Thelac operon
12.2 The use of mutants to study the lac operon
12.3 Eukaryotic gene regulation
12.4 Regulatory elements in evolution
12.5 Additional levels of regulating transcription
12.6 Epigentics
Chapter 13 Cancer Genetics
13.1 Classification of cancers
13.2 Cancer cell biology
13.3 Hallmarks of cancer
13.4 Mutagens and carcinogens
13.5 Oncogenes
13.6 Tumor suppressor genes
13.7 The “poster boy” of genetic research– Gleevec™
Page I -1