1. 14-3: Human Molecular Genetics
Objectives:
What is the goal of the Human Genome Project?
What is gene therapy?

2. Human DNA Analysis
Biologists search the volumes of the human genome using sequences of DNA bases.

3. Testing for Alleles Variety of genetic tests Use labeled DNA probes
Detect the complementary base sequences found in disease-causing alleles
Search for changes in restriction enzyme cutting sites
Detect differences between the lengths of normal and abnormal alleles

4. Testing for Alleles cont’d
DNA testing can pinpoint the exact genetic basis of a disorder
Possible to develop more effective treatment for individuals affected by genetic disease

5. DNA Fingerprinting All DNA is different except for identical twins
DNA fingerprinting: analyzes sections of DNA that have little or no known function but vary widely from one individual to another

6. DNA Fingerprinting cont’d
How DNA fingerprinting works
A small sample of human DNA is cut with a restriction enzyme
Fragments are separated by size
Using gel electrophoresis
Fragments are detected with a DNA probe
Revealing several DNA bands of various sizes
DNA Fingerprinting cont’d

7. DNA Fingerprinting cont’d
DNA samples can be obtained from
Blood
Sperm
Hair strands with tissue at the base

8. DNA Fingerprinting cont’d
Has been used in the USA since the late 1980’s
Has helped
Convict criminals
Overturn many convictions
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9. The Human Genome Project
1990: Scientists in USA and other countries began the Human Genome Project
The Human Genome Project is an ongoing effort to analyze the human DNA sequence
June 2000: Scientists announced that a working copy of the human genome was essentially complete

10. Rapid Sequencing
Determine the sequence of bases in widely separated regions of DNA
Used as markers
Made it possible to locate and return to specific locations in the genome

11. Rapid Sequencing cont’d
“Shotgun sequencing”: cutting DNA into random fragments and then determining the sequence of bases in each fragment
Computers
Found areas of overlap between the fragments
Put the fragments together by linking the overlapping areas
Aligned the fragments relative to the known markers on each chromosome

12. Searching for Genes
Only a small part of a human DNA molecule is made up of genes.
Continue to search for genes in many ways
Research groups around the world
Analyzing the huge amount of information in the DNA sequence
Looking for genes that may provide useful clues to some of the basic properties of life

13. A Breakthrough for Everyone
You can watch/read about the latest genome data on the internet.

14. Gene Therapy
Gene therapy: the process of changing the gene that causes a genetic disorder
In gene therapy, an absent or faulty gene is replaced by a normal, working gene.
The body can make the correct protein or enzyme it needs
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15. Exit Ticket Answer the following questions. Use complete sentences.
You may NOT use your book. You MAY use your notes.
This is a quiz grade.
What is the goal of the Human Genome Project?
What is gene therapy?