Case Study Task: Diagnose the Patient

Task: work through this case step-by-step in groups. Discuss your thinking each step of the way. Start with Step 1. Complete all test in Step 2 before moving to Step 3. You will need internet access for Step 3 only. You will need access to the syllabus and a textbook throughout. Step 1: The Case History Patient: 19 year-old African-American male. Credits for this task are at the end of the sheets. What do you want to do next?Family HistoryBlood protein structureObserve blood sampleDNA sequencing Step 2: Family History Create the patient’s family history using the clues in the case history and this template pedigree chart. You will need to shade in some of the squares and circles. ,[object Object],…………………………………………………………………………………………………………………………………………………………… ,[object Object],…………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… ,[object Object],…………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… What do you want to do next?Family HistoryBlood protein structureObserve blood sampleDNA sequencing Step 2: Blood sample The slides below are light-micrographs of erythrocytes from a healthy person and from the patient. ,[object Object]

Calculate the magnification of these images.

Describe how the patient’s erythrocytes differ from a healthy person’s. …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… ,[object Object],…………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… What do you want to do next?Family HistoryBlood protein structureObserve blood sampleDNA sequencing Step 2: Blood protein structure The images below represent the 3D structures of hemoglobin in a healthy person and in the patient. ,[object Object],…………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… ,[object Object],…………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… ,[object Object]

Explain what genetic factors determine protein structure and therefore why these two proteins are so different. …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… What do you want to do next?Family HistoryBlood protein structureObserve blood sampleDNA sequencing Step 2: DNA Sequencing The gene for Hb production is called HBB and is found on chromosome 11 at locus 11p15.5. The gene of the patient was sequenced and compared to that of a healthy sample. Transcribe and translate this section of the gene. You do not need to look for the start codon. -34290023177500Don’t forget – we transcribe the antisense strand! ,[object Object],…………………………………………………………………………………………………………… ,[object Object],………………………………………………………………………………………………………………………………… ,[object Object],Normal: ……………………………………………………………………………………………………………………………… Patient: ……………………………………………………………………………………………………………………………… ,[object Object],What do you want to do next?Family HistoryBlood protein structureObserve blood sampleDNA sequencing Step 3: The Diagnosis Deduce the illness, using all the evidence presented in this case study. Illness: _________________________________ Reasons: …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… …………………………………………………………………………………………………………………………………………………………… Confirmation: search for the gene and location in the NCBI’s gene database: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene (search hbb gene 11p15.5) Were you correct? _____________ Try searching the names of three other genetic diseases that you know of. Where are they located and what causes the illness? Genetic disorderLocation (gene locus and name)Effects of mutationPhenylketonuria (PKU) Consolidation: Use the class presentation and worksheets to complete notes on the section chromosomes, genes, alleles and mutations. Also, what connections can you make with the Chemistry of Life topics? Credits: This activity is heavily based on “The Mystery of the Crooked Cell” http://web.mst.edu/~djwesten/Images/Crooked_Cell.pdf, By Donald A. DeRosa and B. Leslie Wolfe Adapted by The Institute for Genomic Research The adaptations made here are to allow for the task to be carried out in a low-tech environment and to directly related to the IB Biology course for high school. Completion of the database tasks in step 3 satisfies the requirements for accessing databases in the 4PSOW.

Case Study Task: Diagnose the Patient

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Case Study Task: Diagnose the Patient