A map of mutations in the beta globin gene that lead to Beta thalassemia

Fri, 01/26/2007 - 22:31 — kmcallenberg

This project aims to create a map of the mutations associated with the blood disorder Beta thalassemia. It was put together by the Spring 2007 students of Dr. Khuri's Bioinformatics course at San Jose State University.

Mutation Map project presented at 3rd Annual College of Science Student Research Day

Sat, 05/05/2007 - 01:04 — kmcallenberg


We presented the above poster at the 3rd Annual College of Science Student Research Day on May 4th, 2007.

Mutation list based on HbVar db and genome build 18

Tue, 02/13/2007 - 08:45 — kmcallenberg

The following file is a tab-delimited list of beta Thalasssemia-related mutations with DNA-based positions relative to the transcription site according to genome build 18. There are 217 mutations listed.

Click here to download this file.

Beta-Thalassemia Links

Sat, 01/27/2007 - 14:17 — kmcallenberg

http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900 -- OMIM link
http://globin.cse.psu.edu/globin/hbvar/menu.html -- HbVar Database
http://www.hgmd.cf.ac.uk/ac/gene.php?gene=HBB -- HGMD Database
http://globin.cse.psu.edu/html/huisman/thals/ -- Huisman's Syllabi (1997)

Each of these links provides a long list of Thalassemia-related mutations with references. The HGMD database seems to be the most complete, but for full access you must be a subscriber.

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