genetics: it’s in your blood hemoglobin workspace to illustrate basic genetic concepts
DESCRIPTION
Genetics: It’s 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 - PowerPoint PPT PresentationTRANSCRIPT
Genetics: It’s 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
www.thalassemia.org
Thematic AreasMendelian Inheritance
• Pedigree analysis
www.thalassemia.com
Thematic AreasGene Expression
• Mutation• Regulation of transcription
development regulation
• Gene Structure and Splicing• Protein Structure
www.thalassemia.com
fig.cox.miami.edu/~cmallery/
Developmental expression
Protein structure
Thematic AreasPopulation 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)91:1805-1809
17 noncoding
17 noncoding
7 coding
7 coding
gi_432460_gb_L26469.1_HUMBE TGTATGTGTGTACATATACACATATATATATATATATTTTTTTTCTTTTCgi_432461_gb_L26470.1_HUMBET TGTATGTGTGTACATATACACATATATATATATA--TTTTTTTTCTTTTCgi_432458_gb_L26467.1_HUMBE TGTATGTGTGTACATATACACATATATATATATATATATTTTTTCTTTTCgi_432455_gb_L26464.1_HUMBE TGTATGTGTGTACATATACACATATATATATATATATATTTTTTCTTTTCgi_432456_gb_L26465.1_HUMBET TGTATGTGTGTACATATACACATATATATATATATATATTTTTTCTTTTCgi_432454_gb_L26463.1_HUMBET TGTATGTGTGTACATATACACATATATATATATATTT--TTTTTCTTTTCgi_432457_gb_L26466.1_HUMBET TGTATGTGTGTATATATACACATATATATATATATTT--TTTTTCTTTTCgi_432459_gb_L26468.1_HUMBET TGTATGTGTGTACATATACACATATATATATATATATATTTTTTCTTTTCgi_432462_gb_L26471.1_HUMBET TGTATGTGTGTATATATACACATATATATATATATAT--TTTTTCTTTTCgi_432463_gb_L26472.1_HUMBE TGTATGTGTGTATATATACACATATATATATATATATA--TTTTTTTTTCgi_432469_gb_L26478.1_HUMBET TGTATGTGTGTATATATACACATATATATATATATTT--TTTTTCTTTTCgi_432467_gb_L26476.1_HUMBET TGTATGTGTGTATATATACACATATATATATATATTT--TTTTTCTTTTCgi_432468_gb_L26477.1_HUMBE TGTATGTGTGTATATATACACATATATATATATATTT--TTTTTCTTTTCgi_432466_gb_L26475.1_HUMBE TGTATGTGTGTATATATACACACATATATATATATAT--TTTTTCTTTTCgi_432464_gb_L26473.1_HUMBET TGTATGTGTGTATATATACACATATATATATATATAT--TTTTTCTTTTCgi_432465_gb_L26474.1_HUMBET TGTATGTGTGTATATATACACATATATATATATATAT--TTTTT-TTTTCgi_432453_gb_L26462.1_HUMBE TGTATGTGTGTACATATACACATATATATATATATATATTTTTTCTTTTC ************ ********* *********** * **** *****
Potential Posed Problems
• Ethnicity and allelic variation• Structure and function
variation gene protein
• Physiology of disease• Natural selection`