Gerhold D, Caskey C T
Human Genetics Department, Merck & Co, West Point, PA 19480, USA.
Bioessays. 1996 Dec;18(12):973-81. doi: 10.1002/bies.950181207.
ESTs or 'expressed sequence tags' are DNA sequences read from both ends of expressed gene fragments. The Merck-WashU EST Project and several other public EST projects are being performed to rapidly discover the complement of human genes, and make them easily accessible. These ESTs are widely used to discover novel members of gene families, to map genes to chromosomes as 'sequence-tagged sites' (STSs), and to identify mutations leading to heritable diseases. Informatic strategies for querying the EST databases are discussed, as well as the strengths and weaknesses of the EST data. There is a compelling need to build on the informatic synthesis of human gene data, and to devise facile methods for determining gene functions.
ESTs即“表达序列标签”,是从已表达基因片段的两端读取的DNA序列。默克-华盛顿大学EST项目以及其他几个公共EST项目正在开展,以快速发现人类基因的互补序列,并使其易于获取。这些ESTs被广泛用于发现基因家族的新成员、将基因作为“序列标签位点”(STSs)定位到染色体上,以及识别导致遗传性疾病的突变。本文讨论了查询EST数据库的信息学策略,以及EST数据的优缺点。迫切需要在人类基因数据的信息学综合基础上再接再厉,并设计出简便的方法来确定基因功能。