HbVar.: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
HbVar.: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
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DOI：
10.1002/humu.10044
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发表时间：
2002-01-01
期刊：
影响因子：
3.9
通讯作者：
Wajcman, H
中科院分区：
文献类型：
--
作者：
Hardison, RC;Chui, DHK;Wajcman, H
我们已经构建了血红蛋白变体和地中海贫血突变的关系数据库，称为HbVar，可以在http://globin.cse.psu.edu上访问。记录每个变体和突变的大量信息，包括变体和相关病理学、血液学、电泳迁移率、分离方法、稳定性信息、种族发生、结构研究、功能研究和参考文献的描述。最初的信息来自Titus Huisman博士及其同事的书籍[Huisman et A.，1996、1997、1998年]。目前的数据库定期更新，增加新数据和对以前数据的更正，可根据数据库中的字段制定数据表。常见变异类别的表格，如所有涉及α-珠蛋白基因（HBA 1）的变异或所有导致高氧亲和力的变异，通过对数据库的自动查询来维护。用户可以制定更精确的查询，例如识别“所有与不稳定相关的β-珠蛋白变体，并在苏格兰人群中发现。“这个新的数据库应该是有用的临床诊断，以及在血红蛋白生物化学，珠蛋白基因调控，和人类序列变异在这些位点的基础研究。2002年，《突变》19：225-233。(C)2002 Wiley-Liss，Inc.
We have constructed a relational database of hemoglobin variants and thalassemia mutations, called HbVar, which can be accessed on the web at http://globin.cse.psu.edu. Extensive information is recorded for each variant and mutation, including a description of the variant and associated pathology, hematology, electrophoretic mobility, methods of isolation, stability information, ethnic occurrence, structure studies, functional studies, and references. The initial information was derived from books by Dr. Titus Huisman and colleagues [Huisman et A., 1996, 1997, 1998]. The current database is updated regularly with the addition of new data and corrections to previous data, Queries can be formulated based on fields in the database. Tables of common categories of variants, such as all those involving the alphal,globin gene (HBA1) or all those that result in high oxygen affinity, are maintained by automated queries on the database. Users can formulate more precise queries, such as identifying "all beta-globin variants associated with instability and found in Scottish populations." This new database should be useful for clinical diagnosis as well as in fundamental studies of hemoglobin biochemistry, globin gene regulation, and human sequence variation at these loci. Hum Mutat 19:225-233, 2002. (C) 2002 Wiley-Liss, Inc.