Open Genetics Fall 2014 September, 2014 Version

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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.

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Alberts, B. et al. 2004. "Molecular Biology of the Cell, fourth edition". Garland Science, New York

Felix Ratjen, Gerd Döring, 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-Chee Tsui and Ruslan Dorfman The Cystic Fibrosis Gene: A Molecular Genetic Perspective Cold Spring Harb Perspect, February 2013;3


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 The nuclear 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 Karyotypes Describe Chromosome Number and Structure

2.6 Polyploidy arises 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 Linkage reduces 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 The lac 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™

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