Genome the total number of genes in an individual Human Genome approx 20000 genes on the 46 human chromosomes Human Genome Project HGP Ongoing effort to completely map and sequence our genome ID: 687331
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13.3- The Human GenomeSlide2
What is a genome?
Genome: the total number of genes in an individual.
Human Genome- approx. 20,000 genes on the 46 human chromosomes.
Human Genome Project (HGP)
Ongoing effort to completely map and sequence our genome.Slide3
Human Genome Project
2000- sequence of chromosomes 21 and 22 was completed.
2001- publication of a draft of the 3 billion base pairs (ATCG) of DNA in most human cells.
Completed in 2003. (13 year project)
“The results of the Human Genome Project included a
better understanding
of the roles genes play in the human body. Scientists learned that there were
fewer genes
than originally believed that make up the human genome. They were able to learn that
all genes do not have one specific role
, as was previously believed, but can actually make up to three proteins” (Discovery Channel). Slide4
Linkage Map
A genetic map that shows the relative locations (loci) of genes on a chromosome.Slide5
Gene linkage in humans is
inefficient
Humans only produce a few offspring.
Human generation time is long (lifetime).
Alternative Method:
PCR (amplifies DNA fragments in hours)
Fragments can contain genetic markers that can be traced throughout the genome.
Used to track the inheritance pattern of a gene that hasn’t been identified but whose approximate location is known.Slide6
Applications of the Human Genome Project
Improved techniques for
prenatal
diagnosis of human disorders.
Diagnosis of genetic disorders
Gene therapy
New methods of crime detectionSlide7
Genetic Disorders
We want to find where the gene is located and that a mutation of the gene is the cause of the disorder.
Can diagnose disorders before birth by taking cells from fluid that surrounds fetus and amplifying the cell’s DNA using PCR.
If deviations are found
a mutation is present
Can also analyze DNA for diagnosis using gel electrophoresis. Slide8
Gel ElectrophoresisSlide9
Gene Therapy
The insertion of normal genes into human cells to correct genetic disorders.
Used to treat disorder SCID (severe combined immunodeficiency syndrome).
Cells of immune system are removed from bone marrow and the functional gene is added to them.
Modified cells are then injected back into the patient.
Trials involving gene therapy: hemophilia, some cancers, AIDS, heart disease, cystic fibrosis.Slide10
DNA Fingerprinting
Used by law enforcement to determine if suspects have been at a crime scene.
DNA patterns can be used like fingerprints to identify the person from whom they came.
This process works because no two individuals have the same DNA sequences.Slide11
Forensic Investigations
Small sample of DNA is obtained from suspect and blood, hair, skin or seme
n at a crime scene.
DNA is cut into fragments with restriction enzymes.
Fragments are separated by gel electrophoresis and analyzed.
If samples match- the suspect is probably guilty.Slide12
Please complete the problem solving lab: 13.3
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