Lachmund Peter, Nebel Istvan-Tibor, Führer Dagmar, Paschke Ralf
III Department of Medicine, Section of Medical Education, University of Leipzig, Leipzig, Germany.
Hum Mutat. 2004 Feb;23(2):103-105. doi: 10.1002/humu.10301.
We describe the development of a novel tool that facilitates the design and visualization of pedigrees using a special Internet application. The tool is programmed in Java, using a PHP script as an interface. This web-based tool is used to generate, edit, and/or view pedigrees. The advantage of our novel tool is that it is based on a notation that allows the representation of any given number of generations, family members per generation, and multiple clinical or genetic features of an individual family member. In addition, the notation allows us to minimize the storage space by 100% to 500% and to standardize the presentation of family trees and segregation analysis for inheritance of mendelian disorders or even complex traits. This pedigree tool has been implemented with a database of thyroid-stimulating hormone receptor (TSHR) mutations (http://www.uni-leipzig.de/innere/tshr/).
我们描述了一种新型工具的开发，该工具借助一款特殊的互联网应用程序促进系谱的设计和可视化。该工具用Java编程，使用PHP脚本作为接口。这个基于网络的工具用于生成、编辑和/或查看系谱。我们新型工具的优势在于它基于一种表示法，这种表示法允许呈现任意给定数量的世代、每代的家庭成员数量以及单个家庭成员的多种临床或遗传特征。此外，该表示法使我们能够将存储空间最小化100%至500%，并使家谱的呈现以及孟德尔疾病甚至复杂性状遗传的分离分析标准化。这个系谱工具已与促甲状腺激素受体（TSHR）突变数据库（http://www.uni-leipzig.de/innere/tshr/）一起实现。
