Nowacki P, Byck S, Prevost L, Scriver C R
The DeBelle Laboratory, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Montreal, Quebec H3H 1P3, Canada.
Nucleic Acids Res. 1997 Jan 1;25(1):139-42. doi: 10.1093/nar/25.1.139.
A website (http://www.mcgill.ca/pahdb ) is maintained by the curators for a Consortium (88 investigators, 28 countries) and all other users; it serves a relational database for human locus-specific genetic variation in a defined DNA sequence (GenBank U49897); (100 kb on human chromosome 12q24.1, gene symbol PAH). The intragenic nucleotide variation is both rare (Q< 0.01), extensive (>320 different mutations) and phenotype modifying, causing hyperphenylalaninemia by impairing phenylalanine hydroxylase function (see OMIM 261600), as well as polymorphic and neutral, the latter providing informative locus-specific haplotypes (>1200 different mutation/haplotype associations). The PAH database contains both offline core components (mutations, population associations and data source information) and several accessory online components: (i) relative frequencies of mutations by populations/regions (expanding file); (ii) data on genotype- phenotype correlations both in vitro and in vivo (new file); (iii) polymorphic haplotype structures (new file); (iv) intron sequence data (new file for design of primers); (v) description of mouse homologues (new file for mutations and phenotypes); (vi) the predicted PAH gene mutability profile (improved graphic); (vii) a clinical field for patient use (new interface with database). The website home page has been revised and a counter is recording >15 visits per day. Linkages to other mutation databases and an alliance of mutation database curators (new) are expanding. The primary 'electronic publication' reports now vastly exceed print reports. PAHdb serves as a prototype for obtaining, storing and distributing records of human genetic variation.
一个网站（http://www.mcgill.ca/pahdb ）由一个联盟（88名研究人员，28个国家）的管理员以及所有其他用户维护；它为一个定义的DNA序列（GenBank U49897）中的人类基因座特异性遗传变异提供关系数据库；（人类12号染色体q24.1上100 kb，基因符号PAH）。基因内的核苷酸变异既罕见（Q<0.01）、广泛（>320种不同突变）且可修饰表型，通过损害苯丙氨酸羟化酶功能导致高苯丙氨酸血症（见OMIM 261600），同时也是多态性和中性的，后者提供信息丰富的基因座特异性单倍型（>1200种不同的突变/单倍型关联）。PAH数据库包含离线核心组件（突变、群体关联和数据源信息）以及几个辅助在线组件：（i）按人群/地区划分的突变相对频率（扩展文件）；（ii）体外和体内基因型-表型相关性数据（新文件）；（iii）多态性单倍型结构（新文件）；（iv）内含子序列数据（用于引物设计的新文件）；（v）小鼠同源物描述（关于突变和表型的新文件）；（vi）预测的PAH基因突变性图谱（改进的图形）；（vii）供患者使用的临床领域（与数据库的新界面）。该网站主页已修订，计数器记录每天访问量超过15次。与其他突变数据库的链接以及突变数据库管理员联盟（新）正在扩展。主要的“电子出版物”报告现在大大超过了印刷报告。PAHdb作为获取、存储和分发人类遗传变异记录的原型。
