人类遗传突变数据库及其应用

The Application of Human Mutation Databases

随着人类基因组序列草图的完成,基因组突变的研究显得日益重要,而越来越多的突变信息的积累,使得各种突变数据库相继诞生。根据各种数据库的功能,对目前的人类突变相关数据库资源进行了分类总结,分类为突变数据库、单核苷酸多态信息数据库、与疾病相关的突变数据库、突变对蛋白质的影响、突变图谱以及特定基因的突变信息,分析该如何合理使用这些遗传突变数据资源,以及目前的突变数据库所存在的问题。

Researches on genome mutation are becoming more and more important with the finish of human genome DNA draft. This review is to classify the existing human mutation databases, including mutation database, SNP(single nucleotide polymorphisms) databases, mutation databases about disease, mutation databases about proteins, mutation databases about map and mutation information about specific gene. We also give advice on how to utilize these mutation databases, and discuss problems of existing databases.