Genetics Is the Key to Biology

• Genetics is the science of heredity

and variation

• Study of how traits are passed from

one generation to the next

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 Fidelity and variation in
transmission of genetic material

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 Genes
• Are the basic structural and
functional unit of genetics

• Are sequences of nucleotides in DNA

• Control cells by directing protein

synthesis

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 The Genetic Material - DNA
(Deoxyribonucleic Acid)

•Composed of Nucleotide subunits

•Nucleotides are composed of

Deoxyribose (sugar)
Phosphate group
Bases
A (Adenine), T (Thymine)
G (Guanine) or C (Cytosine)
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
 DNA Is a Double Helix

http://www.biologycorner.com/resources/DNA-colored.gif

Credit: © Science VU/NIH/Visuals Unlimited

DNA model.
35685

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 The Genetic Code Is Universal

• Sequence of nucleotides determines

how the protein is produced from the
gene

• Mutations are changes on the DNA

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Gene Product = Protein

Fig. 1.2

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 Chromosomes

• Genes are
arranged on
chromosomes

Karyotype

Fig. 1.6

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 How Are Genes Transmitted from
Parent to Offspring?
• Gregor Mendel
demonstrated the
principles of
inheritance

• Conducted
experiments on
transmission of
traits in peas

Fig. 1.3

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 Approaches

• Transmission Genetics
• Pedigree Analysis
• Cytogenetics
• Molecular Genetics
• Population Genetics
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
 Transmission Genetics

• Studies the pattern of inheritance

that results when traits are passed
from generation to generation

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 Pedigree Analysis

• Family history is
used to
construct the
pattern of how a
trait is passed
from generation
to generation
Fig. 1.5

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 Cytogenetics

• Studies
chromosome
number and
structure

Fig. 1.6

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Karyotype of Down’s syndrome

http://www.ucl.ac.uk/~ucbhjow/bmsi/lec7_images/47_xx_21.gif

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 Molecular Genetics

• Uses recombinant DNA technology to

identify, isolate, clone, and analyze
genes
• Tremendous impact in the last 40
years
• Debate over social, legal and ethical
issues

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 Population Genetics
• Identifies how much genetic variation
exists in populations
• Investigates factors, such as migration,
population size, and natural selection, that
change the frequency of a specific gene
over time
• Coupled with DNA technology, investigates
evolutionary history and DNA identification
techniques

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Tracing ancestry of the Cohanim;
Thomas Jefferson/Sally Hemings

Lemba

Cohanim

http://www.pbs.org/wgbh/nova/israel/familygene.html

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 Uses of Genetics

• Basic Research
Information about how genes function
What happens when they do not work?

• Applied Research
Commercial products in healthcare,
industry, and agriculture

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 Genetics and Social Policy

• Eugenics
• Genetic Technology
• Human Genome Project
• Health Care
• Recombinant DNA Technology

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 Genetic Technology

• Recombinant DNA

• Important for
Research
Genetic testing
Gene therapy
Biotechnology
Fig. 1.10

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 Human Genome Project
• Public and private research
• Sequence the entire human genome
• First draft in 2001 completed in 2003
• 3 billion nucleotides
• 35,000 genes
• Genomics focuses on the organization
and function of the genomes

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 Health Care
• 10 million children and
adults in U.S. suffer
from a genetic
disorder
• Development of
genetic testing
identifies individuals
at risk and allows us
to develop new
treatments
Fig. 1.11

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

 Recombinant DNA Technology

• Genetically modified food - plants and animals

• Production of human proteins to treat disease

How should this technology be used?

What are the ethical, legal, and social concerns?

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Timeline of Recent Changes

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning