拉福拉病与翁韦里希特-伦德伯格位点无关。

Lafora disease is not linked to the Unverricht-Lundborg locus.

作者信息

Labauge P, Beck C, Bellet H, Coquillat G, Vespignani H, Dulac O, Gilgenkrantz S, Dravet C, Genton P, Pellissier J F

机构信息

Laboratoire de Médecine Expérimentale, CNRS UPR 9008, INSERM U 249, Montpellier, France.

出版信息

Am J Med Genet. 1995 Feb 27;60(1):80-4. doi: 10.1002/ajmg.1320600114.

DOI:10.1002/ajmg.1320600114

PMID:7485240

Abstract

Lafora disease and Unverricht-Lundborg disease are two forms of progressive myoclonus epilepsies (PME). Recently the gene for Unverricht-Lundborg disease (EPM1) was mapped to chromosome 21q22.3. Using three highly polymorphic DNA markers (D21S212, PFKL, and D21S171) which flank the EPM1 locus, we performed linkage analysis to investigate whether or not the EPM1 gene is also implicated in Lafora disease. Linkage was excluded in three North-African pedigrees each comprising at least two affected individuals. This result suggests that differential diagnosis of Lafora disease and Unverricht-Lundborg disease may be facilitated by molecular genetic analysis.

摘要

拉福拉病和翁韦里希特-伦德伯格病是进行性肌阵挛癫痫（PME）的两种类型。最近，翁韦里希特-伦德伯格病（EPM1）的基因被定位到21号染色体的22.3区。我们使用位于EPM1基因座两侧的三个高度多态性DNA标记（D21S212、PFKL和D21S171）进行连锁分析，以研究EPM1基因是否也与拉福拉病有关。在三个每个至少有两名患者的北非家系中排除了连锁关系。这一结果表明，分子遗传学分析可能有助于拉福拉病和翁韦里希特-伦德伯格病的鉴别诊断。