Download Sickle Cell Anemia

Sickle Cell Anemia
Origins of sickle cell anemia and why it persists?
20 min
Scott - What is a gene?- DNAi
DNA – RNA – protein – link in animation of transc. and translation
UWE -INTERACTIVE - show hemoglobin protein structure – go to NCBI
– view protein structure Scott - What is a genetic disorder?
Example of genetic disorder - Sickle Cell –
Map of where disease is prevalent What causes the genetic disorder?
Why does it persist?
When did it originate?
Scott - INTERACTIVE – 30 minutes
Where is HB gene? NCBI - Human genome
-use ncbi to pull out HB beta gene if time – intron/coding sequence
get coding sequence
GO TO sequence server
give them HBS coding sequence
intro start codon
alignment
what does this mean in terms of protein?
Translate – GENEBOY – PROVIDE edited versions of sequence to put
into geneboy
Alignment – clustalW- Pasteur
Uwe – 15 minutes Identify difference in proteins at amino acid level
Compare 3D structure of HBB and HBS
Show difference in side chains between E and V
15 minutes - Jennie - YGYH – what mutation causes in terms of protein polymerization –
ISOLATE appropriate slides from “what causes sickle cell?”
Movie from DNAi
What does this do to the patient?
Clinical context of disease – YGYH – interview with patient
45 minutes - Scott – what happens to a mutation within a population?
Why is Sickle Cell maintained in a population.
Simulation Server
Genetic drift/ selection/ no selection
Link to simulation server –
Handout with exercises.
Small population
Large population
Introduction to agriculture
Sickle cell is present in other areas of the world.
Overlap of where sickle cell is and where malaria is endemic
Mutations can occur on different backgrounds – haplogroups
Globin slide with chart – haplotyping.
http://www.dpd.cdc.gov/dpdx/HTML/Malaria.asp?body=Frames/MR/Malaria/body_Malaria_page2.htm