Pilz A J, Povey S, Gruss P, Abbott C M
Department of Genetics and Biometry, University College London, UK.
Mamm Genome. 1993;4(2):78-82. doi: 10.1007/BF00290430.
Mutations in paired-box-containing (Pax) genes have recently been found to be the primary lesions underlying human genetic disorders such as Waardenburg's Syndrome type 1 and mouse developmental mutants such as undulated (un), splotch (Sp), and small eye (Sey). In addition, PAX-6 is a strong candidate gene for aniridia in man. Eight independent Pax genes have been isolated in the mouse. All eight map to distinct regions of the mouse genome; they do not appear to be clustered in the same way as some groups of homeobox-containing genes. We have now mapped the human homologs of all eight of these genes; PAX genes are found on human Chromosomes (Chr) 1, 2, 7, 9, 10, 11, and 20.
最近发现，含成对盒（Pax）基因的突变是人类遗传疾病（如1型瓦登伯革氏综合征）和小鼠发育突变体（如起伏（un）、斑点（Sp）和小眼（Sey））的主要病变基础。此外，PAX - 6是人类无虹膜症的一个强有力的候选基因。在小鼠中已分离出八个独立的Pax基因。所有这八个基因都定位到小鼠基因组的不同区域；它们似乎不像某些含同源异型盒基因的群体那样成簇分布。我们现已绘制出所有这八个基因的人类同源基因图谱；PAX基因位于人类染色体1、2、7、9、10、11和20上。
