Genetics: Its in your Blood Hemoglobin Workspace to Illustrate Basic Genetic Concepts Alix Darden, Dave Westenberg, Michael Rubin and Patty Shields Audience Genetics class Majors and non majors Major Objectives To provide a framework for learning basic genetic principles To use hemoglobinopathies to illustrate bioinformatics To use primary literature in the classroom 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 Thematic Areas Mendelian Inheritance Pedigree analysis Thematic Areas Gene Expression Mutation Regulation of transcription development regulation Gene Structure and Splicing Protein Structure fig.cox.miami.edu/~cmallery/ Developmental expression Protein structure Thematic Areas Population Genetics Allelic Variation Phylogenetics Evolutionary Conservation 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 Data Set PNAS (1994)91: 17 noncoding 7 coding gi_432460_gb_L _HUMBE TGTATGTGTGTACATATACACATATATATATATATATTTTTTTTCTTTTC gi_432461_gb_L _HUMBET TGTATGTGTGTACATATACACATATATATATATA--TTTTTTTTCTTTTC gi_432458_gb_L _HUMBE TGTATGTGTGTACATATACACATATATATATATATATATTTTTTCTTTTC gi_432455_gb_L _HUMBE TGTATGTGTGTACATATACACATATATATATATATATATTTTTTCTTTTC gi_432456_gb_L _HUMBET TGTATGTGTGTACATATACACATATATATATATATATATTTTTTCTTTTC gi_432454_gb_L _HUMBET TGTATGTGTGTACATATACACATATATATATATATTT--TTTTTCTTTTC gi_432457_gb_L _HUMBET TGTATGTGTGTATATATACACATATATATATATATTT--TTTTTCTTTTC gi_432459_gb_L _HUMBET TGTATGTGTGTACATATACACATATATATATATATATATTTTTTCTTTTC gi_432462_gb_L _HUMBET TGTATGTGTGTATATATACACATATATATATATATAT--TTTTTCTTTTC gi_432463_gb_L _HUMBE TGTATGTGTGTATATATACACATATATATATATATATA--TTTTTTTTTC gi_432469_gb_L _HUMBET TGTATGTGTGTATATATACACATATATATATATATTT--TTTTTCTTTTC gi_432467_gb_L _HUMBET TGTATGTGTGTATATATACACATATATATATATATTT--TTTTTCTTTTC gi_432468_gb_L _HUMBE TGTATGTGTGTATATATACACATATATATATATATTT--TTTTTCTTTTC gi_432466_gb_L _HUMBE TGTATGTGTGTATATATACACACATATATATATATAT--TTTTTCTTTTC gi_432464_gb_L _HUMBET TGTATGTGTGTATATATACACATATATATATATATAT--TTTTTCTTTTC gi_432465_gb_L _HUMBET TGTATGTGTGTATATATACACATATATATATATATAT--TTTTT-TTTTC gi_432453_gb_L _HUMBE TGTATGTGTGTACATATACACATATATATATATATATATTTTTTCTTTTC ************ ********* *********** * **** ***** Potential Posed Problems Ethnicity and allelic variation Structure and function variation gene protein Physiology of disease Natural selection`