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Chapter 1

The Science of Genetics


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Chapter Outline
An Invitation
Three Great Milestones in Genetics
DNA as the Genetic Material
Genetics and Evolution
Levels of Genetic Analysis
Genetics in the World: Applications of
Genetics to Human endeavours
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Three Great Milestones in
Genetics
Gregor Mendel: Genes and the rules of inheritance
James Watson and Francis Crick: the structure of
DNA
The Human Genome Project: sequencing DNA and
cataloguing genes
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Mendel: Genes and the
Rules of Inheritance (1866)
Geneshereditary factors responsible
for traits
Allelesdifferent forms of genes
Rules of Inheritance
Alleles of the same gene separate
during gamete formation
Alleles of different genes are
inherited independently
What is a Gene?
Genes are made of nucleic acids
Nucleic acids are made of building
blocks called nucleotides
Nucleotides have three
components
Sugar molecule (ribose or
deoxyribose)
Phosphate molecule
Nitrogen-containing molecule
(adenine, guanine, cytosine,
thymine, uracil)
RNA is ribonucleic acid
DNA is deoxyribonucleic acid
Watson and Crick:
The Structure of DNA (1953)
Nucleotides are linked in a
chain through sugar-
phosphate interactions
DNA molecules are made
of two chains of
nucleotides wound around
each other in a helix
Base pairs hold the chains
together
A pairs with T
G pairs with C
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The Human Genome Project:
Sequencing DNA and
Cataloguing Genes
Genomethe collection of DNA
molecules that is characteristic of an
organism
Genomics is the analysis of DNA
sequences that make up a genome
Genomics involves DNA sequencing
technology, robotics, and computer
science
The Human Genome Project
determined the sequence of nucleotides
in the DNA of the human genome
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Key Points
Gregor Mendel postulated the existence of
particular factorsnow called genesto
explain how traits are inherited.
Alleles, the alternate forms of genes, account
for heritable differences among individuals.
J ames Watson and Francis Crick elucidated
the structure of DNA, a macromolecule
composed of two complementary chains of
nucleotides.
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Key Points
DNA is the hereditary material of all life forms
except some types of viruses, in which RNA
is the hereditary material.
The Human Genome Project determined the
sequence of nucleotides in the DNA of the
human genome.
Sequencing the DNA of a genome provides
the data to identify and catalogue all the
genes of an organism.
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DNA as the Genetic Material
Information flows Central dogma
from DNA to RNA to protein.
In all cellular organisms, the genetic material is DNA.
The genetic material
Must be able to replicate
Must contain information
Must be able to change
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DNA Replication
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DNA Replication
Based on the complementary nature of the two
strands of duplex DNA molecules.
When the two parental strands are separated, the
separated strands can serve as template for the
synthesis of new strands.
New strands are assembled by incorporating
nucleotides according to base-pairing rules.
At the end of replication, each template strand is
paired with a newly synthesized partner strand.
DNA replication is catalyzed by enzymes.
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Gene Expression:
Using Genetic Information
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Gene Expression
During transcription, an RNA molecule is
synthesized from a DNA template.
This messenger RNA (mRNA) molecules contains
the information needed to synthesize a polypeptide.
During translation, the triplet codons in the RNA
specify the incorporation of particular amino acids
into a polypeptide chain.
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The Proteome
Proteomethe collection of all the different proteins
in an organism.
Humans have between 20,000 and 25,000 genes in
the genome and hundreds of thousands of proteins in
the proteome.
Proteomicsthe study of all the proteins in cells.
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The Central Dogma of
Molecular Biology
The flow of information is DNA RNAprotein.
Some viruses can use RNA as a template for the
synthesis of DNA in reverse transcription.
Many genes do not encode polypeptides; their end-
products are RNA molecules.
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Mutation:
Changing Genetic Information
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Key Points
When DNA replicates, each strand of a duplex
molecule serves as the template for the
synthesis of a complementary strand.
When genetic information is expressed, one
strand of a genes DNA duplex is used as a
template for the synthesis of a complementary
strand of DNA.
For most genes, RNA synthesis (transcription)
generates a molecule (the RNA transcript) that
becomes a messenger RNA (mRNA).
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Key Points
Coded information in an mRNA is translated
into a sequence of amino acids in a
polypeptide.
Mutations can alter the DNA sequence of a
gene.
The genetic variability created by mutation is
the basis for biological evolution.
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Genetics and Evolution
Variation in the DNA sequence makes it
possible for species to evolve over time.
Organisms with similar DNA sequences
are descended from a common ancestor.
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A phylogenetic tree
A phylogenetic tree, or
phylogeny, represents the
historical relationships
among organisms.
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Key Points
Evolution depends on the occurrence,
transmission, and spread of mutant genes in
groups of organisms.
DNA sequence data provide a way of
studying the historical process of evolution.
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Levels of Genetic Analysis
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Geneticists approach their science from
different points of viewfrom that of a
gene, a DNA molecule, or a population of
organisms.
Classical Genetics
Based on analysis of the outcomes of crosses
between different strains of organisms.
Can be coordinated with studies of the structure and
behaviour of chromosomes.
Encompasses transmission genetics and studies of
the nature of the genetic material
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Molecular Genetics
Studies the replication, expression, and mutation of
genes at the molecular level.
Rooted in the study of DNA sequences and the
manipulation of DNA molecules.
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Population Genetics
Individuals within a population may carry different
alleles of genes.
Population genetics is based on analyzing allele
frequencies in a population and determining whether
these frequencies changes over time.
Population genetics includes evolution and the
inheritance of complex traits.
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Key Points
In classical genetic analysis, genes are
studied by following the inheritance of traits in
crosses between different strains of an
organism.
In molecular genetic analysis, genes are
studied by isolating, sequencing, and
manipulating DNA and by examining the
products of gene expression.
In population genetic analysis, genes are
studied by assessing the variability among
individuals in a group of organisms.
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Genetics in the World:
Applications of Genetics to
Human Endeavors
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Genetics is relevant in many venues
outside the research laboratory.
Genetics in Agriculture:
Selective Breeding
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Genetics in Agriculture:
Genetically Modified Organisms
Genetically Modified Organisms (GMOs) are have
been altered by the introduction of foreign genes.
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Genetics in Medicine
Inborn Errors of Metabolism are metabolic
abnormalities caused to mutant alleles.
Genetic Counselors advise people about inheritance
of genetic diseases.
Molecular genetics
new ways to detect mutant alleles.
new ways to treat diseases.
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Genetics in Society
Economic impactbiotechnology industry,
pharmaceutical industry.
Legal impactpaternity testing, forensics, identification
Philosophical impact
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Key Points
Discoveries in genetics are changing
procedures and practices in agriculture and
medicine.
Advances in genetics are raising ethical, legal,
political, social, and philosophical questions.
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