Mutations and genetic engineering can alter genes. There are different types of mutations like point mutations, frameshift mutations, and chromosomal inversions that can cause genetic disorders. The Human Genome Project mapped gene sequences to aid in diagnosing and treating diseases. Genetic engineering techniques allow manipulating genes and include gene therapy, transgenic organisms, cloning, and other applications that could help cure diseases but also raise safety concerns if not properly addressed.

1. Mutations and Genetic
Engineering

2. Mutations
• Types of mutations
– Point Mutations or Substitutions: causes
the replacement of a single base nucleotide
with another nucleotide
• Missense- code for a different amino
acid
• Nonsense- code for a stop, which can
shorten the protein
• Silent- code for the same amino acid
(AA)

4. Mutations
• Example: Sickle Cell Anemia

5. Mutations
• Types of mutations
– Frame Shift Mutations:
the number of nucleotides
inserted or deleted is not
a multiple of three, so
that every codon beyond
the point of insertion or
deletion is read
incorrectly during
translation.
• Ex.: Crohn’s disease

6. Insertion Deletion

7. Mutations
• Types of mutations
– Chromosomal Inversions: an entire section of
DNA is reversed.
– Ex.: hemophilia,
a bleeding disorder

9. Human Genome Project
• The Human Genome Project is a
collaborative effort of scientists around
the world to map the entire gene sequence
of organisms.
• This information will be useful in
detection, prevention, and treatment of
many genetic diseases.

10. Wrap-Up

11. DNA Technologies
• DNA technologies allow
scientists to identify,
study, and modify
genes.
• Forensic identification
is an example of the
application of DNA
technology.

12. Gene Therapy
• Gene therapy is a technique for
correcting defective genes responsible
for disease development.
• Possible cures for:
– diabetes
– cardiovascular disease
– cystic fibrosis
– Alzheimer's
– Parkinson’s
– and many other diseases is possible.

13. Genetic Engineering
• The human manipulation of the genetic
material of a cell.
• Recombinant DNA- Genetically
engineered DNA prepared by splicing
genes from one species into the cells
of a different species. Such DNA
becomes part of the host's genetic
makeup and is replicated.

14. A Brief History of Genetic
Engineering
• The name is new, the practice is not.
• Plants and animals have been bred for
thousands of years.
• Human breeding has also been done now and
then.
• All of this has worked by trying to enhance
desired characteristics, without knowing how
they are transmitted.

15. Prospects for
Genetic Engineering
• Designing plants & animals “from scratch”
– This is not going to happen anytime soon
• Transgenic Engineering
– Putting genetic information from one type of plant or
animal into another
• Cloning
– Making genetic copies of an existing plant or animal
• Let’s look at the latter two of these.

16. Transgenic Organisms
• An organism is called “transgenic” if it has
genetic information added to it from a
different type of organism.
• Viruses do something of this sort when
they infect plants, animals or humans.
• Humans have begun to do this with plants
and animals.
• We are not yet making flying pigs!

17. Advantages of Transgenic
Engineering
• Plants:
– More disease-resistant
– Larger yields
– More transportable
– More nutritious
• Animals:
– Make proteins for medicinal purposes
– Make organs for transplant to humans

18. Concerns about
Transgenic Engineering
• Plants:
– Are they safe to eat?
– Will they harm wildlife?
– Will some become super-pest weeds?
– Replace or contaminate natural plants?
• Animals:
– Will they be harmful?
– Replace or contaminate natural animals?

19. Cloning
• A “clone” is a copy of something.
• Computers that mimic IBMs are called “clones.”
• In genetics, a clone is a genetic copy of another
organism.
• Clones occur naturally:
– Asexual breeding in plants & lower animals
– Identical twins (triplets) in higher animals

20. A Brief History
of Cloning
• For centuries it has been known that simple
animals – worms & starfish – can be cloned by
cutting them in half.
• This doesn’t work for higher animals!
• Part of the problem is cell specialization:
– Nerve
– Bone
– Muscle, etc.
– We now realize that each specialized cell has all the
genetic information, but much of it is turned off.

21. Cloning in the
20th Century
• We now realize that each specialized cell
has all the genetic information, but much
of it is turned off.

22. Dolly - 1996
• Clone from an adult
sheep cell by Scots
researchers under Ian
Wilmut
• Had only one success in
300 tries.
• Dolly grew to maturity,
and successfully had a
lamb by natural means in
1998.
• But Dolly seems to be
prematurely old.

23. Genetic Engineering
• Genetic engineering techniques are used in
a variety of industries, in agriculture, in
basic research, and in medicine.
This genetically
engineered cow
resists infections of
the udders and can
help to increase
dairy production.

24. Genetic Engineering
• There is great potential for the
development of useful products through
genetic engineering
• EX., human growth hormone, insulin, and pest-
and disease-resistant fruits and vegetables
Seedless
watermelons
are genetically
engineered

25. Genetic Engineering
• We can now grow new body parts and soon
donating blood will be a thing of the past,
but will we go too far?
Photo of a mouse
growing a "human ear"