Evans C D, Searle A G, Schinzel A A, Winter R M
Institute of Child Health, University of London, UK.
J Med Genet. 1996 Apr;33(4):289-94. doi: 10.1136/jmg.33.4.289.
Genetic mapping and the examination of "candidate genes" for isolating loci associated with clinical syndromes can be greatly accelerated if there is information about where in the genome a particular locus might be situated. Such clues can come from homology to mouse mutants that have been mapped and knowledge of homology between mouse and human chromosomal segments. Further clues can come from chromosome aberrations giving a similar phenotype. However, these clues are often scattered widely in published reports, and even if they are collected together in catalogues or databases there is no rapid way of moving from one data type to another. The Dysmorphic Human and Mouse Homology Database (DHMHD) is designed to ease this data transition. DHMHD comprises detailed information from four separate sources and enables cross referencing through phenotypic and chromosome homology. The DHMHD system is a prototype which is now available online through the World-Wide Web.
如果有关于特定基因座可能位于基因组何处的信息,那么基因定位以及对用于分离与临床综合征相关基因座的“候选基因”的检测就可以大大加快。此类线索可来自与已定位的小鼠突变体的同源性,以及小鼠和人类染色体片段之间同源性的知识。其他线索可来自产生相似表型的染色体畸变。然而,这些线索通常广泛分散在已发表的报告中,即使它们被收集在目录或数据库中,也没有从一种数据类型快速转换到另一种数据类型的方法。畸形人类和小鼠同源性数据库(DHMHD)旨在简化这种数据转换。DHMHD包含来自四个独立来源的详细信息,并能够通过表型和染色体同源性进行交叉引用。DHMHD系统是一个原型,现在可通过万维网在线获取。