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Introduction
Open Genetics - Fall 2014
September, 2014 Version
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Page I -i
Introduction
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BIBLIOGRAPHY
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
MendelWeb.
R. B. Blumberg, {August 1, 2012}. World Wide Web URL: www.mendelweb.org/
Online Mendelian Inheritance in Man, OMIM®.
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University
(Baltimore, MD), {August 1, 2012}. World Wide Web URL:
http://omim.org/
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: www.ygyh.org/
Page I -ii
Introduction
TABLE OF CONTENTS
Chapter 1
1.1
1.2
1.3
1.4
1.5
1.6
1.7
Introduction and Overview
Overview
DNA is the genetic material
The structure of DNA
Genes are the basic units of inheritance
The function of genes
The nuclear genome
Model organisms facilitate genetic advances
Chapter 2
2.1
2.2
2.3
2.4
2.5
2.6
2.7
2.8
2.9
Chromosomes, Mitosis, & Meiosis
DNA is packaged into Chromatin
Mitosis
Meiosis
The cell cycle and changes in DNA content
Karyotypes Describe Chromosome Number and Structure
Polyploidy arises from changes in whole sets of chromosomes
Endo-reduplication
Gene Balance
Organellar genomes
Chapter 3
3.1
3.2
3.3
3.4
3.5
3.6
3.7
Genetic Analysis of Single Genes
Mendel's first law
Relationships between genes, genotypes, and phenotypes
Biochemical basis of dominance
Crossing techniques used in classical genetics
Sex-linkage: an exception to Mendel's first law
Phenotypes may not be as expected from the genotype
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
5.1
5.2
5.3
5.4
5.5
Pedigrees and Populations
Pedigree analysis
Inferring the mode of inheritance
Sporadic and non-heritable diseases
Calculating probabilities
Population genetics
Chapter 6
6.1
6.2
6.3
Genetic Analysis of Multiple Genes
Dihybrid crosses
Epistasis and other gene interactions
Examples of multiple genes affecting one character
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Introduction
Page I -iv
Chapter 7
7.1
7.2
7.3
7.4
7.5
7.6
7.7
Linkage & Mapping
Linkage
Recombination
Linkage reduces recombination frequency
Crossovers allow recombination of linked loci
Inferring recombination from genetic data
Genetic mapping
Mapping with three-point crosses
Chapter 8
8.1
8.2
8.3
8.4
8.5
8.6
8.7
Techniques of Molecular Biology
Isolating genomic DNA
Isolating or detecting a specific sequence by PCR
Cutting and pasting DNA: restriction digests and DNA ligation
Cloning DNA: plasmid vectors
DNA analysis: gel electrophoresis
DNA analysis: blotting and hybridization
Transgenic organisms
Chapter 9
9.1
9.2
9.3
9.4
Changes in Chromosome Number & Structure
Changes in chromosome number
Changes in chromosome structure
Chromosome abnormalities in humans
Diagnosing human chromosome abnormalities
Chapter 10
10.1
10.2
10.3
10.4
10.5
Molecular Markers & Quantitative Traits
Some variations in the genome affect complex traits
Origins of molecular polymorphisms
Classification and detection of molecular markers
Applications of molecular markers
Quantitative trait locus (QTL) analysis
Chapter 11
11.1
11.2
11.3
11.4
Genomics and Systems Biology
'Omics technologies
DNA sequencing
Whole genome sequencing
Functional genomics – determining functions(s)
Chapter 12
12.1
12.2
12.3
12.4
12.5
12.6
Regulation of Gene Expression
The lac operon
The use of mutants to study the lac operon
Eukaryotic gene regulation
Regulatory elements in evolution
Additional levels of regulating transcription
Epigentics
Chapter 13
13.1
13.2
13.3
13.4
13.5
13.6
13.7
Cancer Genetics
Classification of cancers
Cancer cell biology
Hallmarks of cancer
Mutagens and carcinogens
Oncogenes
Tumor suppressor genes
The “poster boy” of genetic research – Gleevec™