1. Genetics: It’s in your Blood Hemoglobin Workspace to Illustrate Basic Genetic Concepts Alix Darden, Dave Westenberg, Michael Rubin and Patty Shields

2. Audience Genetics class Majors and non majors

3. Major Objectives To provide a framework for learning basic genetic principles To use hemoglobinopathies to illustrate bioinformatics To use primary literature in the classroom

4. Thalassemia mutations in  -globin lead to  - thalassemia; mutations and deletions in  - globin lead to  - thalassemia  mutations in coding and non-coding regions mutations found most frequently in people of Italian, Greek, Middle Eastern, Southern Asian and African ancestry signs and symptoms  anemia (mild to severe)  untreated leads to severe complications major cause cause of death - heart failure or infection

5. www.thalassemia.org

6. Thematic Areas Mendelian Inheritance Pedigree analysis www.thalassemia.com

7. Thematic Areas Gene Expression Mutation Regulation of transcription  development regulation Gene Structure and Splicing Protein Structure

8. www.thalassemia.com fig.cox.miami.edu/~cmallery/ Developmental expression Protein structure

9. Thematic Areas Population Genetics Allelic Variation Phylogenetics Evolutionary Conservation

11. Defining the Problem Space Background on Thalassemia  Thalassemia.com; thalassemia.org PNAS paper (and other primary literature) Data Set  DNA sequences  protein sequences Links to tools  Biology Workbench, NBCI, JGI, Globin Gene Server, References

12. Data Set PNAS (1994)91:1805-1809

15. 17 noncoding

17. 7 coding

19. gi_432460_gb_L26469.1_HUMBE TGTATGTGTGTACATATACACATATATATATATATATTTTTTTTCTTTTC gi_432461_gb_L26470.1_HUMBET TGTATGTGTGTACATATACACATATATATATATA--TTTTTTTTCTTTTC gi_432458_gb_L26467.1_HUMBE TGTATGTGTGTACATATACACATATATATATATATATATTTTTTCTTTTC gi_432455_gb_L26464.1_HUMBE TGTATGTGTGTACATATACACATATATATATATATATATTTTTTCTTTTC gi_432456_gb_L26465.1_HUMBET TGTATGTGTGTACATATACACATATATATATATATATATTTTTTCTTTTC gi_432454_gb_L26463.1_HUMBET TGTATGTGTGTACATATACACATATATATATATATTT--TTTTTCTTTTC gi_432457_gb_L26466.1_HUMBET TGTATGTGTGTATATATACACATATATATATATATTT--TTTTTCTTTTC gi_432459_gb_L26468.1_HUMBET TGTATGTGTGTACATATACACATATATATATATATATATTTTTTCTTTTC gi_432462_gb_L26471.1_HUMBET TGTATGTGTGTATATATACACATATATATATATATAT--TTTTTCTTTTC gi_432463_gb_L26472.1_HUMBE TGTATGTGTGTATATATACACATATATATATATATATA--TTTTTTTTTC gi_432469_gb_L26478.1_HUMBET TGTATGTGTGTATATATACACATATATATATATATTT--TTTTTCTTTTC gi_432467_gb_L26476.1_HUMBET TGTATGTGTGTATATATACACATATATATATATATTT--TTTTTCTTTTC gi_432468_gb_L26477.1_HUMBE TGTATGTGTGTATATATACACATATATATATATATTT--TTTTTCTTTTC gi_432466_gb_L26475.1_HUMBE TGTATGTGTGTATATATACACACATATATATATATAT--TTTTTCTTTTC gi_432464_gb_L26473.1_HUMBET TGTATGTGTGTATATATACACATATATATATATATAT--TTTTTCTTTTC gi_432465_gb_L26474.1_HUMBET TGTATGTGTGTATATATACACATATATATATATATAT--TTTTT-TTTTC gi_432453_gb_L26462.1_HUMBE TGTATGTGTGTACATATACACATATATATATATATATATTTTTTCTTTTC ************ ********* *********** * **** *****

20. Potential Posed Problems Ethnicity and allelic variation Structure and function variation  gene  protein Physiology of disease Natural selection`