Hemoglobinopathy
Assignment - Due Last Friday of the Semester
Attention:
This is not a typical writing assignment, so do not
treat it as such. The intent is for you to do
your very best work. The paper
you turn
in should demonstrate that you truly understand and can apply what you
have
learned in this course. It should reveal your ability to reflect on a
scientific topic and communicate it visually and in writing to others
in a
meaningful context. It is an opportunity to display your ability to
formulate
and explore personal learning issues, to find and assimilate relevant
information from the scientific literature, and then synthesize
everything into
a meaningful paper that is not just a term paper. If done well, you
might want
to include your paper in an online portfolio to demonstrate that you
have
achieved the standards expected of you at the
Background for the Assignment: Linus Pauling introduced the concept of molecular disease by demonstrating that the gene for sickle cell anemia was directly related to a chemical alteration of hemoglobin in the red blood cells of affected individuals. A few years later, Vernon Ingram identified a single amino acid replacement at position 6 of the beta chains of sickle cell hemoglobin (HbS) and showed that the sequence of the remaining 145 amino acids of the beta chains and all 141 amino acids in the alpha chains of hemoglobin were unchanged compared to normal hemoglobin (HbA). Subsequently, others determined the exact nucleotide substitution mutation in the beta globin gene possessed by sickle cell patients.
These discoveries prompted a stampede of sorts to discover other hemoglobin variants and the corresponding mutations in DNA. There are now on the order of 1000 different mutations known to affect the amino acid sequence or production of hemoglobin. While many of these are single-nucleotide-substitution mutations, deletions, and insertions that have little or no clinical effects, the consequences of others vary from benign to severe, as in the case of thalassemias. Many medical biochemists have made a career studying these usually rare hemoglobinopathies.
Using a list of hemoglobinopathies (alpha-chain, beta-chain, thalassemias), pick an interesting example to investigate as the basis for a 5-10 page, double-spaced, well-organized report. Select a variant that no one else in class has selected. Your report should have the following elements:
Each group should arrange a time before April 23 to meet for 30-60 minutes with Catherine Wojewodzki, a science librarian in 117C Morris Library (831-8085, or Cathyw at udel.edu) who is familiar with this project and can provide assistance in tracking down the information you need. In the past, students have had problems because they did not take full advantage of the resources available. You will need to develop these library research skills as part of your undergraduate education. (They go well beyond "Googling" the Internet.)
Cathy Wojewodzki normally likes to work with 6-8 students at a time. Find some convenient times for your group to meet and then have one member of your group contact Cathy to schedule a meeting. Please schedule your meeting by Tuesday, April 13. Each session will take 30 - 45 minutes.
Cathy will work with you on your actual Hb variants. If you make your selection and get it approved before you attend this session, you will not have to repeat the work. Groups will meet in Room 116B in Morris Library Reference Room area and use the laptop computers in there. You are welcome to bring your own, if you prefer.
This assignment will be evaluated for its composition, content, clarity of presentation, and depth of your analysis. An "A paper" must go beyond simple reporting of information. For example, a molecular graphics representation of your hemoglobin variant showing the location of any mutational modification, but make sure it shows something worth seeing. Remember, this should be your synthesis of the information, not a paraphrasing words by others. Late papers will not be accepted without a grade penalty.
Other Options: Students who would rather explore aspects of hemoglobin function, evolution, or properties of unusual hemoglobins from other species may do so in consultation with Dr. White. There are related topics available such as Glucose-6-P deficiency (favism).
Suggestions:3. Feel free to discuss your ideas and any
difficulties you have with me (Dr. White) preferably well before the
due date..
Hemoglobin-H
alphaThalassemia - DRa |
Hb E beta K26E
- LD |
Cooley's
Anemia/beta Thalassemia - MB |
Hb
Bethesda beta Y145H - CBl |
G6PHD
deficiency - DK |
Hb Philly
beta Y35F - AB |
Hb
Porto Alegre beta S9C - VF |
Hb
Constant Spring alpha Term142Y -SJ |
Hb
Barts ß4 RR |
Hb
New York beta V113E - DRo |
Hb
M Milwaukee beta H67Y - JP |
Hb
San Diego beta v109M - CH |
Hb
Seal Rock alpha2 Term142E - MR |
Hb
Hammersmith beta S42F - SM |
Hb
Hope beta G136D - CBr |
Hb
Mizuho beta L68P - NP |
Hb Marseille beta V2P - AH | Hb
Lepore-Hollandia - SG |
Hb
Kansas beta N102T - KP |
Hb Dunn alpha D6N - AS |
Hb
Gun Hill beta del 91-95 - WC |
Hb
York beta H146P - JL |
Hb
Abruzzo beta H143R - LW |
Hb Raleigh beta V1AcAla - TG |
Hb
D-Punjab beta E121Q - HP |
Hemocyanin CW |
Hb
Adaptive Evolution - NA |
Hb
G San Jose beta E7G - TM |