Maurice Godfrey, Ph.D. University of Nebraska Medical Center Omaha, NE 68198-5430 Email: mgodfrey@unmc.edu Basics of DNA, Genes, Chromosomes Language of DNA Alphabet – A C T G Words – All three letter words Vocabulary – About 20 Amino Acids Prose – Interesting Facts About the Human Genome If your DNA were lined up end to end, it would go to the moon and back 260 times There are about 3 x 109 nucleotide base pairs in the human genome (the complete set of genes in one cell). If you took all of the DNA from a single human cell and laid the strands end to end, it would be about 2 meters long! All of that DNA is folded and packed into the nucleus of a human cell. The diameter of the nucleus is about 0.005 mm or 1/500 the width of a dime. There are 6 billion bits of information coded by DNA in each of our nucleated cells (a bit is a measure of information). Each human cell contains twenty-one times the information that is found in the Encyclopedia Britannica, which is thought to have about 280 million letters. What are Mutations? Original Message SAM AND TOM ATE THE HAM Missense Mutation - Causes amino acid substitution Premature Stop Codon - Prevents part of the protein from being made Frameshift Mutation - Message starts in the wrong place mRNA Splicing Mutation - Portion of the message is left out, leading to a shortened protein Gene Duplication Heritable Disorders of Connective Tissue Mutations in the Extracellular Matrix “Our Birthday Suit How to Extract DNA from Anything Living Adapted from work by the Genetic Science Learning Center: http://learn.genetics.utah.edu/units/activities/extraction/ 1) First, you will need the source of your DNA. Every living thing has DNA - bacteria, yeast, insects, plants and animals. We all have it. Today we will use a common food you may eat all the time. 2) You will work in pairs or groups of three. On your table you will find a sandwich bag with a piece of fruit or vegetables inside. Start mashing! Make sure you completely mash it up. Lots of these protocols use a blender. Today, you are the blender. 3) Add the liquid that is in one of the purple topped tubes in your “DNA Extraction Kit” (aka the large Ziploc bag on your table). This is your extraction buffer. It has water, Palmolive dish soap and salt. There is one part soap to nine parts water. 4) While one partner continues to mash the fruit/vegetable with the extraction buffer the other partner can start preparing to filter. Put one of the coffee filters in the plastic cup and try to fold the edges of the filter over the cup so that the filter doesn’t fall into the cup. You should use the rubber band in your kit to secure the filter. 5) Pour the mashed fruit/vegetable with the liquid and salt into the filter. 6) While it’s filtering through, we will spend some time talking about what is happening and what we’ve done so far. If your sample doesn’t filter well you might want to think of some ways to get it to flow better. We will talk about this too. 7) When we are ready, take the filter off the cup and throw it into the large empty baggie on your table. When instructed, pour the filtrate (the liquid that came through the coffee filter) into the cold 70% isopropanol that we will hand you. POUR SLOWLY. There should be about 20ml of the alcohol in the tube. 8) The alcohol should form a layer on top. At the interface between the water and alcohol layer you will see the DNA come out of the solution and float to the top. 9) Slowly and carefully rotate the wooden stick in the fruit extract. Wind the DNA around the wooden stick like thread on a spool. Remove the DNA from the tube and observe the DNA. 10) Place some DNA in your microcentrifuge tube. Add several drops of alcohol to the tube. The DNA will continue to remain as a precipitate and will be stable for many years in the tube. Close the lid tightly to avoid evaporation. Questions: 1) Where in the cell is the DNA found? 2) What was the detergent for? 3) Why did we add alcohol? 4) If we extracted DNA from peas, bananas or a chicken liver, what would the final DNA look like? How would it compare to the DNA from the strawberry that you collected today? Native Americans in Genetics Clifton Poodry, Ph.D. Dr. Poodry is a biologist turned scientific administrator with research expertise in developmental genetics. He had a 22-year research and teaching career in cell biology and developmental genetics in Drosophila at the University of California, Santa Cruz, prior to joining NIGMS. At NIGMS, Poodry serves as director of the Division of Minority Opportunities in Research, where he oversees the administration of grants designed to increase the number and capabilities of minority biomedical scientists. These grants support a variety of activities, including research training, infrastructure improvement, curriculum enrichment, and laboratory research at minority institutions. Cited from http://www.nigms.nih.gov/About/Poodry.htm Joan Esnayra, Ph.D. Joan Esnayra, Ph.D. is President and founder of the Psychiatric Service Dog Society. As the recipient of the 2006 Eli Lilly ‘Welcome Back Award’ in Primary Care, Dr. Esnayra has spent the past nine years pioneering the ‘Psychiatric Service Dog’ therapeutic model. Building upon her analytical training as a scientist, and her insights as a mental health consumer, Dr. Esnayra and members of her online community identified over 30 tasks or functions that Psychiatric Service Dogs may be trained to provide to their owners who are disabled by refractory symptoms of severe mental illness. Dr. Esnayra trained in classical genetics and received her doctorate from University of California, San Diego. Cited from: http://www.psychdog.org/index.html