Cordeiro P, Hechtman P, Kaplan F
Department of Biology, McGill University, Montreal, Quebec, Canada.
Genet Med. 2000 Nov-Dec;2(6):319-27. doi: 10.1097/00125817-200011000-00003.
The GM2 gangliosidoses are a group of recessive disorders characterized by accumulation of GM2 ganglioside in neuronal cells. The genes responsible for these disorders are HEXA (Tay-Sachs disease and variants), HEXB (Sandhoff disease and variants), and GM2A (AB variant of GM2 gangliosidosis). We report the establishment of three relational locus-specific databases recording allelic variation at the HEXA, HEXB, and GM2A genes and accessed at the GM2 gangliosidoses home page (http://data.mch.mcgill.ca/gm2-gangliosidoses). Submission forms are available for the addition of new mutations to the databases. The databases are available online for users to search and retrieve information about specific alleles by a number of fields describing mutations, phenotypes, or author(s).
GM2神经节苷脂沉积症是一组隐性疾病，其特征是GM2神经节苷脂在神经元细胞中蓄积。导致这些疾病的基因有HEXA（泰-萨克斯病及其变异型）、HEXB（桑德霍夫病及其变异型）和GM2A（GM2神经节苷脂沉积症AB变异型）。我们报告建立了三个相关的基因座特异性数据库，记录HEXA、HEXB和GM2A基因的等位基因变异，可在GM2神经节苷脂沉积症主页（http://data.mch.mcgill.ca/gm2-gangliosidoses）上访问。有提交表单可用于向数据库中添加新的突变。这些数据库可供用户在线搜索，并通过描述突变、表型或作者等多个字段检索有关特定等位基因的信息。
