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

Techniques for Studying Genetic Disorders

What techniques are used to study human DNA?

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

Step 1: Cutting DNA• The enzymes produced by bacteria are

called restriction enzymes– Like “molecular scissors”

• Restriction enzymes cut DNA into specific pieces, called restriction fragments

• Each enzyme cuts DNA at a different sequence, so scientists know the exact bases in each piece

EcoRI – a restriction enzyme• E. coli produces the restriction enzyme 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

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

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 negatively charged —move toward the positive end of the gel

• The smaller the DNA fragment, the faster and farther it moves

DNA and Forensics

• Which suspectcommitted the crime?

DNA and Paternity Testing

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.

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

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

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

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

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