一种与特发性震颤相关的基因（ETM）定位于2号染色体的2p22 - p25区域。

A gene (ETM) for essential tremor maps to chromosome 2p22-p25.

作者信息

Higgins J J, Pho L T, Nee L E

机构信息

Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1430, USA.

出版信息

Mov Disord. 1997 Nov;12(6):859-64. doi: 10.1002/mds.870120605.

DOI:10.1002/mds.870120605

PMID:9399207

Abstract

We report the results of linkage analysis in a large American family of Czech descent with dominantly inherited "pure" essential tremor (ET) and genetic anticipation. Genetic loci on chromosome 2p22-p25 establish linkage to this region with a maximum LOD score (Zmax) = 5.92 for the locus, D2S272. Obligate recombinant events place the ETM gene in a 15-cM candidate interval between the genetic loci D2S168 and D2S224. Repeat expansion detection analysis suggests that expanded CAG trinucleotide sequences are associated with ET. These findings will facilitate the search for an ETM gene and may further our understanding of the human motor system.

摘要

我们报告了对一个来自捷克裔的美国家庭进行连锁分析的结果，该家族患有显性遗传的“纯”特发性震颤（ET）且存在遗传早现现象。2号染色体p22 - p25上的基因座与该区域建立了连锁关系，基因座D2S272的最大对数优势分数（Zmax）= 5.92。明确的重组事件将ETM基因定位在基因座D2S168和D2S224之间15厘摩的候选区间内。重复序列扩增检测分析表明，CAG三核苷酸序列的扩增与ET相关。这些发现将有助于寻找ETM基因，并可能增进我们对人类运动系统的理解。