Access to A Syllabus of Human Hemoglobin Variants (1996) via the World Wide Web

被引:48
作者
Hardison, RC [1 ]
Chui, DHK
Riemer, CR
Miller, W
Carver, MFH
Molchanova, TP
Efremov, GD
Huisman, THJ
机构
[1] Penn State Univ, Dept Biochem & Mol Biol, Althouse Lab 206, University Pk, PA 16802 USA
[2] Penn State Univ, Ctr Gene Regulat, Dept Comp Sci & Engn, University Pk, PA 16802 USA
[3] McMaster Univ, Dept Pathol, Prov Hemoglobinopathy DNA Diagnost Lab, Hamilton, ON L8N 3Z5, Canada
[4] Med Coll Georgia, Augusta, GA 30912 USA
[5] Macedonian Acad Sci & Arts, Res Ctr Genet Engn & Technol, Skopje 91000, Macedonia
关键词
D O I
10.3109/03630269809092136
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Information on mutations in human hemoglobin is important in many efforts, including understanding the pathophysiology of hemoglobin diseases, developing therapies, elucidating the dynamics of sequence alterations in human populations, and dissecting the details of protein structure/function relationships. Currently, information is available on a large number of mutations and variants, but is distributed among thousands of papers. In an effort to organize this voluminous data set, two Syllabi have been prepared compiling succinct information on human hemoglobin abnormalities. In both of these, each entry provides amino acid and/or DNA sequence alterations, hematological and clinical data, methodology used for characterization, ethnic distribution, and functional properties and stability of the hemoglobin, together with appropriate literature references. A Syllabus of Human Hemoglobin Variants (1996) describes 693 abnormal hemoglobins resulting from alterations in the alpha-, beta-, gamma-, and delta-globin chains, including special abnormalities such as double mutations, hybrid chains, elongated chains, deletions, and insertions. We have converted this resource to an electronic form that is accessible via the World Wide Web at the Globin Gene Server (http://globin.cse.psu.edu). Hyperlinks are provided from each entry in the tables of variants to the corresponding full description. In addition, a simple query interface allows the user to find all entries containing a designated word or phrase. We are in the process of converting A Syllabus of Thalassemia Mutations (1997) to a similar electronic format.
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页码:113 / 127
页数:15
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