GENETIC TECHNOLOGY
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Transcript GENETIC TECHNOLOGY
GENETIC MUTATIONS
GENE MUTATIONS
Change/mistake with
individual gene
Point Mutation – 1
amino acid is changed
Frameshift Mutation –
an amino acid is added
or deleted
GENETIC MUTATIONS
CHROMOSOMAL MUTATIONS
Mistakes affect the entire chromosome
Deletion: lose part of chromosome
Duplication: gain extra parts on a chromosome
GENETIC MUTATIONS
Inversion: rearrangement of the chromosome
Translocation: genes are rearranged btw 2 different
chromosomes
GENETIC MUTATIONS
Nondisjunction: chromosomes do NOT separate during
meiosis results in polyploidy (too many
chromosomes)
Cause of many different genetic diseases
Down’s, Klinefelter, Turner’s, Triple X, XYY
DIAGNOSING GENETIC DISEASES
GENETIC COUNSELORS
Research family history to determine parents’ risk of
passing genetic disorders to their children
Typically used by couples with family history of genetic
disorders
DIAGNOSING GENETIC DISEASES
GENETIC TESTING
Carrier Recognition – parents can be tested to see if
carry genes for genetic disorder
(Tay-Sachs, cystic fibrosis, sickle-cell anemia)
Fetal Testing – test unborn child for genetic disorders
Remove fetal tissue
Allow cells to multiply in the lab
Magnify & photograph chromosome spread
Create a karyotype – map of chromosomes
NORMAL KARYOTYPES
MALE
FEMALE
DIAGNOSING GENETIC DISEASES
Types of Fetal Tests:
Amniocentesis (15-20 wks) – remove amniotic fluid from mother
Fluid tested for chemical indicators or used create karyotype
CVS - Chorionic Villus Sampling (8-10 wks)
Remove tissue from placenta – more immediate results
Ultrasound – looks for major structural abnormalities
Fetoscopy – insert fiber optic scope into uterus to examine fetus for
major abnormalities
DNA FINGERPRINTS
DNA can be collected from any living tissue
(blood, skin, hair, urine, semen, sweat or tears)
Gel Electrophoresis
DNA sample is inserted into a “gel”
An electric current is passed through the gel
Shorter strands move farther down the gel as pieces of
DNA separate & show up as bands
Gel is stained to make the bands more visible
Samples are compared to find a match
DNA FINGERPRINTS
DNA FINGERPRINTS
Human Genome Project
Map all the genes on the 46 human chromosomes
Information has led to many advances in the fields of
medicine, agriculture, bio-engineering
GE – WHAT IS IT?
Removing genes from one organism and inserting
them in another
GE – HOW DO THEY DO IT?
RESTRICTION ENZYMES
• Naturally occur in
bacteria – used cut up
foreign DNA (form of
protection)
• Cut DNA fragments are
called “sticky ends”
• S. ends of DNA
fragments can be joined
in a lab to produce
recombinant DNA (mix
of DNA)
GE – WHAT CAN IT DO?
PROS
Disease resistant crops
New vaccines &
medications (insulin)
Bigger livestock more
meat, milk, wool etc.
CONS
Unpredictable
technology is new & no
guarentee that products
free of side affects
$$ companies patent
genes & demand high
prices
GENE THERAPY
Replace defective genes
w/ normal or functional
genes
When cells reproduce
normal gene will also be
replicated
Most suitable for single
gene mutations
Enzyme deficiencies
SOMATIC CELL THERAPY
Somatic cells = body cells
Mutated cells removed
Corrected gene inserted
“New” cells returned
Affects only the
individual receiving
treatment
Temporary cure – cells
die off
STEM CELL THERAPY
Stem cell = basis all
future cells
Found embryo, chord
blood & bone marrow
May provide broader,
more long-lasting
treatment
Not currently safe or
100% effective
GERM CELL THERAPY
Germ cells = gametes
Replace or remove
defective genes in
sperm/egg cells prior to
fertilization
Affect future generations
Permanent solution
Successful in mice &
primates
Social & Ethical Issues
Are humans next?
Who should have access
to this technology?
Are we playing God?
If we can fix disorders,
what else could we fix?
Where do we draw the
line – what is too much?