McGraw Royal A, Carmichael K Paige
Department of Physiology and Pharmacology, College of Veterinary Medicine, University of Georgia, Athens GA 30602, USA.
Vet J. 2006 Mar;171(2):370-2. doi: 10.1016/j.tvjl.2004.10.019.
Globoid cell leukodystrophy (GLD), or Krabbe's disease, is a progressive autosomal recessive disorder of the central nervous system in man and in various other species. GLD has been shown to result from various mutations in the gene encoding galactocerebrosidase (GALC), a lysosomal enzyme. We investigated the molecular basis of GLD in a related group of Irish setters. Sequencing of the GALC cDNA from an affected individual revealed an insertion mutation of 78 base pairs (bp) consisting of 16 bp of insertion site duplication and 62 bp of sequence derived from the U4 small nuclear RNA. We implemented a PCR-based test which is useful for identifying carriers of the mutation.
球形细胞脑白质营养不良（GLD），即克拉伯病，是一种发生于人类和其他多种物种的中枢神经系统进行性常染色体隐性疾病。已证实，GLD是由编码半乳糖脑苷脂酶（GALC，一种溶酶体酶）的基因发生各种突变所致。我们研究了一组相关的爱尔兰赛特犬中GLD的分子基础。对一只患病个体的GALC cDNA进行测序，发现了一个78个碱基对（bp）的插入突变，该突变由16 bp的插入位点重复和62 bp源自U4小核RNA的序列组成。我们实施了一项基于PCR的检测方法，该方法可用于识别该突变的携带者。
