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14–3 Human Molecular
14-3 Human Molecular Genetics
Genetics
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14–3 Human Molecular Genetics
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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14–3 Human Molecular Genetics
Human DNA Analysis
Genetic tests are available for hundreds of
disorders.
DNA testing can pinpoint the exact genetic basis of
a disorder.
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14–3 Human Molecular Genetics
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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A DNA fingerprint is a type of restriction map.
DNA fingerprints are based on parts of an individual’s
DNA that can by used for identification.
•
•
•
•
noncoding regions of DNA
Number of nucleotide repeats
a person’s molecular identity
banding pattern on a gel is a DNA fingerprint
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DNA fingerprinting is used for identification.
DNA fingerprinting and probability of a match.
Many people have the
same number of
repeats in a certain
region of DNA.
(mother) (child 1) (child 2) (father)
The probability that two
people share identical
numbers of repeats in
several locations is
very small.
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14–3 Human Molecular Genetics
Human DNA Analysis
RememberChromosomes
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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14–3 Human Molecular Genetics
Human DNA Analysis
Restriction enzymes are used to cut the DNA into
fragments containing genes and repeats.
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14–3 Human Molecular Genetics
Human DNA Analysis
DNA fragments are
separated using gel
electrophoresis.
Fragments containing
repeats are labeled.
This produces a series
of bands—the DNA
fingerprint.
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– Individual probabilities are multiplied to find the
overall probability of two DNA fingerprints randomly
matching.
1/500 x 1/90 x 1/ 120
= 1/5,400,000
or 1 chance in 5.4 million people
– Several regions of DNA are
used to make DNA fingerprints.
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Human DNA Analysis
•DNA fingerprinting is used in
several ways.
– evidence in criminal cases
– paternity tests
– immigration requests
– studying biodiversity
– Tracking genetically
modified crops
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14–3 Human Molecular Genetics
Genomics and Bioinformatics
• Genomics is the study of genomes.
–can include the sequencing of the genome
–comparisons of genomes within and across
species
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14–3 Human Molecular Genetics
Genomics and Bioinformatics
•Gene sequencing is
determining the order of DNA
nucleotides in genes or in
genomes.
•The genomes of several
different organisms have
been sequenced.
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The Human Genome Project
The Human Genome Project
What is the goal of the Human Genome
Project?
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14–3 Human Molecular Genetics
The Human Genome Project
The Human Genome Project is an ongoing effort
to analyze the human DNA sequence.
In 1990, scientists in the United States and other
countries began the Human Genome Project.
In June 2000, a working copy of the human genome
was essentially complete. It has sequenced all of the
DNA base pairs and chromosomes.
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14–3 Human Molecular Genetics
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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14–3 Human Molecular Genetics
The Human Genome Project
•Bioinformatics is the use of computer databases to organize and
analyze biological data.
•DNA microarrays allows scientists to study the expression of
many genes at once. It is used to compare gene expression in
different types of cells.
•Proteomics is the study and comparison of proteins. It is used to
study evolutionary relationships and human disease.
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DNA fingerprinting analyzes sections of DNA
that have
a. little or no known function but are identical
from one individual to another.
b. little or no known function but vary widely
from one individual to another.
c. a function and are identical from one
individual to another.
d. a function and are highly variable from one
individual to another.
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DNA fingerprinting uses the technique of
a. gene therapy.
b. allele analysis.
c. gel electrophoresis.
d. gene recombination.
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Repeats are areas of DNA that
a. do not code for proteins.
b. code for proteins.
c. are identical from person to person.
d. cause genetic disorders.
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Data from the human genome project is
available
a. only to those who have sequenced the DNA.
b. to scientists who are able to understand the
data.
c. by permission to anyone who wishes to do
research.
d. to anyone with Internet access.
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Which statement most accurately describes
gene therapy?
a. It repairs the defective gene in all cells of the
body.
b. It destroys the defective gene in cells where
it exists.
c. It replaces absent or defective genes with a
normal gene.
d. It promotes DNA repair through the use of
enzymes.
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