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GENETIC TECHNOLOGY

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Page 1: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

GENETIC TECHNOLOGY

Page 2: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

GENETIC MUTATIONSGENE MUTATIONS

Change/mistake with individual gene

Point Mutation – 1 amino acid is changed

Frameshift Mutation – an amino acid is added or deleted

Page 3: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

GENETIC MUTATIONSCHROMOSOMAL MUTATIONS

Mistakes affect the entire chromosomeDeletion: lose part of chromosome

Duplication: gain extra parts on a chromosome

Page 4: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

GENETIC MUTATIONSInversion: rearrangement of the chromosome

Translocation: genes are rearranged btw 2 different chromosomes

Page 5: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

GENETIC MUTATIONSNondisjunction: 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

Page 6: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

DIAGNOSING GENETIC DISEASESGENETIC 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

Page 7: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

DIAGNOSING GENETIC DISEASESGENETIC 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

Page 8: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

NORMAL KARYOTYPESMALE FEMALE

Page 9: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

DIAGNOSING GENETIC DISEASESTypes of Fetal Tests:

Amniocentesis (15-20 wks) – remove amniotic fluid from mother Fluid tested for chemical indicators or used create

karyotypeCVS - Chorionic Villus Sampling (8-10 wks)

Remove tissue from placenta – more immediate resultsUltrasound – looks for major structural abnormalitiesFetoscopy – insert fiber optic scope into uterus to

examine fetus for major abnormalities

Page 10: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

DNA FINGERPRINTSDNA 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 gelShorter strands move farther down the gel as

pieces of DNA separate & show up as bandsGel is stained to make the bands more visibleSamples are compared to find a match

Page 11: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

DNA FINGERPRINTS

Page 12: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

DNA FINGERPRINTS

http://groups.google.com/group/ChatterjeeScienceScholars/web/Shamari%20Davis%20Gel%20Edited.jpg
Page 13: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added
Page 14: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

Human Genome ProjectMap all the genes on the 46 human

chromosomesInformation has led to many advances in the

fields of medicine, agriculture, bio-engineering

Page 15: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

GE – WHAT IS IT? Removing genes from one organism and

inserting them in another

Page 16: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

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)

Page 17: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

GE – WHAT CAN IT DO?PROS

Disease resistant crops

New vaccines & medications (insulin)

Bigger livestock more meat, milk, wool etc.

CONSUnpredictable

technology is new & no guarentee that products free of side affects

$$ companies patent genes & demand high prices

Page 18: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

GENE THERAPYReplace defective

genes w/ normal or functional genes

When cells reproduce normal gene will also be replicated

Most suitable for single gene mutations Enzyme deficiencies

Page 19: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

SOMATIC CELL THERAPYSomatic cells = body

cellsMutated cells

removedCorrected gene

inserted“New” cells

returnedAffects only the

individual receiving treatment

Temporary cure – cells die off

Page 20: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

STEM CELL THERAPYStem cell = basis all

future cellsFound embryo,

chord blood & bone marrow

May provide broader, more long-lasting treatment

Not currently safe or 100% effective

Page 21: GENETIC MUTATIONS GENE MUTATIONS Change/mistake with individual gene Point Mutation – 1 amino acid is changed Frameshift Mutation – an amino acid is added

GERM CELL THERAPYGerm cells =

gametesReplace or remove

defective genes in sperm/egg cells prior to fertilization

Affect future generations

Permanent solutionSuccessful in mice &

primates

Social & Ethical IssuesAre 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?


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