Techniques for Studying Genetic Disorders

1. Techniques for Studying Genetic Disorders What techniques are used to study human DNA?

2. How do you study DNA? • How can scientists read DNA if the smallest chromosome is 50 million base pairs long? • They cut, separate, and then replicate DNA base by base

3. Step 1: Cutting DNA • The enzymes produced by bacteria are called restriction enzymes • Like “molecular scissors” • Restriction enzymes cut DNA into specific pieces, called restrictionfragments • Each enzyme cuts DNA at a different sequence, so scientists know the exact bases in each piece

4. EcoRI – a restriction enzyme • E. coli produces the restrictionenzyme called “EcoRI” • Cuts DNA at the sequence G A A T T C C T T A A G • Leaves single-stranded overhangs, called “sticky ends,” with the sequence AATT • The sticky ends can bond, or “stick,” to a DNA fragment with the complementary base sequence

5. Step 2: Separating DNA • Once DNA has been cut by restriction enzymes, it must be separated by fragment size • Gel electrophoresis – technique that separates DNA fragments by SIZE using an electric current through a porous gel

7. Gel electrophoresis • A mixture of DNA fragments is placed at one end of a porous gel • When an electric voltage is applied to the gel, DNA molecules—which are negativelycharged —move toward the positive end of the gel • The smaller the DNA fragment, the faster and farther it moves

8. DNA and Forensics • Which suspectcommitted the crime?

9. DNA and Paternity Testing

10. The Human Genome Project • In 1990, the United States, along with several other countries, launched the Human Genome Project. • The main goals: to sequence all 3 billion base pairs of human DNA and identify all human genes. • Other important goals included: sequencing the genomes of model organisms to interpret human DNA, developing technology to support the research, exploring gene functions, studying human variation, and training future scientists.

11. New fields of study from HGP • The Human Genome Project opened the doors for a new field of study called bioinformatics • Bioinformatics combines molecular biology with information science. It is critical to studying and understanding the human genome

12. New fields of study • Bioinformatics also launched a more specialized field of study known as genomics—the study of whole genomes, including genes and their functions

13. What we’ve learned from The Human Genome Project • Identified genes and particular sequences in those genes with numerous diseases and disorders • Identified about 3 million locations where single-base DNA differences occur in humans, which may help us find DNA sequences associated with diabetes, cancer, and other health problems. • This information is free and public on the internet

14. New questions to consider • Who owns and controls genetic information? • Is genetic privacy different from medical privacy? • Who should have access to personal genetic information, and how will it be used? • In May 2008, President George W. Bush signed into law the Genetic Information Nondiscrimination Act, which prohibits U.S. insurance companies and employers from discriminating on the basis of information derived from genetic tests

15. What to Know for Test: • How scientists cut DNA: Restriction fragments, restriction enzymes, EcoRI • Gel electrophoresis: what is it? How does it work? How does DNA get separated on the gel? • Goals of the Human Genome Project • New problems arisen from the HGP • New fields of study: bioinformatics, genomics, • What’s been done about genetic privacy and why? • George Bush’s legislation