Kim Jeong-Hyun, Cho Yoon-Hee, Kim Jeong-Kook, Park Yong-Gou, Chang Jin Woo
School of Life Sciences and Biotechnology, Korea University, Seoul, Korea.
Mov Disord. 2005 Dec;20(12):1650-3. doi: 10.1002/mds.20646.
Essential tremor (ET) is the most common but a complex neurological movement disorder. ET usually affects hands, but it may also affect head, neck, face, jaw, tongue, voice, trunk and, rarely, legs and feet. Although two susceptibility loci were identified on chromosome 2p24 (ETM2) and 3q13 (ETM1 or FET1), the exact transcript(s) has not been cloned. We analyzed unrelated Korean individuals with ET for a genetic association with three reported polymorphic loci (STS-etm1240, STS-etm1231, and STS-etm1234) in a candidate region on chromosome 2p24.1. We investigated sequence polymorphisms at these three loci in 30 ET patients and 30 controls using polymerase chain reaction (PCR) amplification followed by sequence analysis. Eight different sequence variants (5 at etm1234, 2 at etm1240, and 1 at etm1231) were detected from 7 patients. Of interest, sequence variants were found only in classic ET patients but not in nonclassic ET patients and healthy individuals. Additionally, we also observed that a decrease in the number of short tandem repeats within etm1234 locus is more frequent in ET patients compared to controls. Our data thus support that ET development would be linked with the ETM2 locus and will facilitate the search for the ETM2 gene transcript.
特发性震颤（ET）是最常见但复杂的神经运动障碍。ET通常影响手部，但也可能影响头部、颈部、面部、下颌、舌头、声音、躯干，很少影响腿部和脚部。尽管在2号染色体p24（ETM2）和3号染色体q13（ETM1或FET1）上确定了两个易感基因座，但确切的转录本尚未克隆。我们分析了不相关的韩国特发性震颤患者，以研究其与2号染色体p24.1候选区域中三个已报道的多态性基因座（STS-etm1240、STS-etm1231和STS-etm1234）的遗传关联。我们使用聚合酶链反应（PCR）扩增，随后进行序列分析，研究了30例ET患者和30例对照中这三个基因座的序列多态性。从7例患者中检测到8种不同的序列变异（etm1234有5种，etm1240有2种，etm1231有1种）。有趣的是，序列变异仅在典型ET患者中发现，而非典型ET患者和健康个体中未发现。此外，我们还观察到，与对照组相比，etm1234基因座内短串联重复序列数量减少在ET患者中更为常见。因此，我们的数据支持特发性震颤的发生与ETM2基因座有关，并将有助于寻找ETM2基因转录本。
