1. 14-3 Human Molecular Genetics
Photo credit: Richard Hutchings/Photo Researchers, Inc.
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Curriculum Outcomes:
Demonstrate an understanding of current genetic engineering techniques, using knowledge of DNA.
Explain the importance of human genome research.
Demonstrate an understanding of the use of restriction enzymes within biotechnology and the role of plasmids and bacteria in DNA transfer between cells.
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Human DNA Analysis
Human DNA Analysis
There are roughly 6 billion base pairs in your DNA.
Biologists search the human genome using sequences of DNA bases.
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Human DNA Analysis
Genetic tests are available for hundreds of disorders.
DNA testing can pinpoint the exact genetic basis of a disorder.
Some genetic tests use DNA probes, which are specific DNA sequences that detect the complementary base sequences that the scientist is trying to locate.
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Human DNA Analysis
DNA Fingerprinting 
DNA fingerprinting analyzes sections of DNA that have little or no known function but vary widely from one individual to another.
Only identical twins are genetically identical.
DNA samples can be obtained from blood, sperm, and hair strands with tissue at the base.
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Human DNA Analysis
Chromosomes contain large amounts of DNA called repeats that do not code for proteins.
This DNA pattern varies from person to person.
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Human DNA Analysis
Restriction enzymes are used to cut the DNA into fragments containing genes and repeats.
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Human DNA Analysis
DNA fragments are separated using gel electrophoresis.
Fragments containing repeats are labeled with a DNA probe.
This produces a series of bands—the DNA fingerprint.
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Human DNA Analysis
DNA Fingerprint
Photo credit: ©Leonard Lessin/Peter Arnold, Inc
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10. The Human Genome Project
What is the goal of the Human Genome Project?
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11. The Human Genome Project
In 1990, scientists in the United States and other countries began the Human Genome Project.
The Human Genome Project is an ongoing effort to analyze the human DNA sequence.
In June 2000, a working copy of the human genome was essentially complete.
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Rapid Sequencing (aka shotgun sequencing) (not in notes)
Scientists used “shotgun sequencing” to analyze the Human DNA sequence. It involves cutting up DNA into small fragments. Each fragment is sequenced and then computers are used to link overlapping areas like putting pieces of a puzzle together.
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13. marker
Shotgun Sequencing

14. The Human Genome Project
Research groups are analyzing the DNA sequence, looking for genes that may provide clues to the basic properties of life.
Biotechnology companies are looking for information that may help develop new drugs and treatments for diseases.
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15. The Human Genome Project
A Breakthrough for Everyone
Data from publicly supported research on the human genome have been posted on the Internet on a daily basis.
You can read and analyze the latest genome data.
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Gene Therapy
Gene Therapy
What is gene therapy?
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Gene Therapy
In gene therapy, an absent or faulty gene is replaced by a normal, working gene.
The body can then make the correct protein or enzyme, eliminating the cause of the disorder.
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Gene Therapy
Viruses are often used because of their ability to enter a cell’s DNA.
Virus particles are modified so that they cannot cause disease.
Normal hemoglobin gene
Gene therapy is the process of changing the genes that cause a genetic disorder. This drawing shows how a virus might be used to deliver the gene for normal hemoglobin into a person’s bone marrow.
Genetically engineered virus
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Gene Therapy
A DNA fragment containing a replacement gene is spliced to viral DNA.
Bone marrow cell
Nucleus
Chromosomes
Gene therapy is the process of changing the genes that cause a genetic disorder. This drawing shows how a virus might be used to deliver the gene for normal hemoglobin into a person’s bone marrow.
Genetically engineered virus
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Gene Therapy
The patient is then infected with the modified virus particles, which should carry the gene into cells to correct genetic defects.
Gene therapy is the process of changing the genes that cause a genetic disorder. This drawing shows how a virus might be used to deliver the gene for normal hemoglobin into a person’s bone marrow.
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14–3
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14–3
DNA fingerprinting analyzes sections of DNA that have
little or no known function but are identical from one individual to another.
little or no known function but vary widely from one individual to another.
a function and are identical from one individual to another.
a function and are highly variable from one individual to another.
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14–3
DNA fingerprinting uses the technique of
gene therapy.
allele analysis.
gel electrophoresis.
gene recombination.
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14–3
Repeats are areas of DNA that
do not code for proteins.
code for proteins.
are identical from person to person.
cause genetic disorders.
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14–3
Data from the human genome project is available
only to those who have sequenced the DNA.
to scientists who are able to understand the data.
by permission to anyone who wishes to do research.
to anyone with Internet access.
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14–3
Which statement most accurately describes gene therapy?
It repairs the defective gene in all cells of the body.
It destroys the defective gene in cells where it exists.
It replaces absent or defective genes with a normal gene.
It promotes DNA repair through the use of enzymes.
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