Name ____________________________________ Date ___________ Period ____________ Karyotyping Activity In this activity, you will use a computer model to look at chromosomes and prepare a karyotype. You will diagnose patients for abnormalities and learn the correct notation for characterizing karyotypes. PART I: Go to www.biology.arizona.edu Click on Human Biology and then select Web Karyotyping . Progress through the activities and answer the questions below. 1. What causes a dark band on the chromosome? 2. What is a centromere? Patient Histories: Click on Patient Histories. You will be completing a karyotype for Patient A, B & C 3. Patient A ( Click on the link to "Complete Patient A's Karyotype" ) Match the chromosome to its homolog. After all the matches are complete you'll analyze your patient. (Scroll down to view your completed karyotype). What is patient A's history (summarize)? How many total chromosomes are in your karyotype? (Count them) What sex chromosomes does your patient have? Which chromosome set has an extra chromosome? What diagnosis would you give this patient (what disease)? 4. Patient B - click on the link to go to Patient B and repeat the above process. What is patient B's history (summarize)? How many total chromosomes are in your karyotype? (Count them) What sex chromosomes does your patient have? Which chromosome set has an extra chromosome? What diagnosis would you give this patient (what disease)? Finish the notation for this patient's karyotype : 47 X _____ Name ____________________________________ Date ___________ Period ____________ 5. Patient C - click on the link to go to Patient C and repeat the above process. What is patient C's history (summarize)? How many total chromosomes are in your karyotype? (Count them) What sex chromosomes does your patient have? Which chromosome set has an extra chromosome? What diagnosis would you give this patient (what disease)? Write out the correct notation for this karyotype. PART II: Genetic Science Learning Center Go to http://gslc.genetics.utah.edu Select Heredity and Traits for the following activities. Go to :How do scientists read chromosomes? 1. What is Giemsa? 2. What are the three key features used to read chromosomes? 3. Describe and sketch: metacentric, submetacentric, acrocentric. What do the “p” and “q” refer to on the chromosome? 4. Go to: Making a Karyotype - Try it yourself Create your own karyotype - turning on hints is okay. What did you find difficult about matching the chromosomes? Name ____________________________________ Date ___________ Period ____________ 5. Go to What is What is What is -Using Karyotypes to Predict Genetic Disorders trisomy? ______________________________________ monosomy? ____________________________________ a terminal deletion? ________________________________ PART III: Google each of the disorders, then, briefly (2-3 sentences) describe the condition and locate where in the genome (chromosome loci) it occurs. Cri Du Chat Cystic fibrosis Hairy ears Huntington’s Duchene’s Muscular Dystrophy Pheylketenuria (PKU) Sickle cell anemia Williams Syndrome