Conway D, Bain P G, Warner T T, Davis M B, Findley L J, Thompson P D, Marsden C D, Harding A E
University Department of Clinical Neurology, (Neurogenetics Section and MRC Human Movement and Balance Unit), Institute of Neurology, London, England.
Mov Disord. 1993 Jul;8(3):374-6. doi: 10.1002/mds.870080324.
Hereditary essential tremor (ET) is an autosomal dominant disorder with variable expression and reduced penetrance. A tremor indistinguishable from ET may be observed in patients with autosomal dominant idiopathic torsion dystonia (ITD), in which the disease locus has been mapped to 9q32-34 in some kindreds, tightly linked to the argininosuccinate synthetase (ASS) locus. We performed linkage analysis in 15 families with ET containing 60 definitely affected individuals, using dinucleotide repeat polymorphisms at the ASS locus and the Abelson locus (ABL). Cumulative lod scores were -19.5 for ASS and -10.8 for ABL at a recombination fraction of 0.01, and tight linkage to ASS was excluded individually in 11 of the families. These data indicate that the ET gene is not allelic to that causing ITD.
遗传性特发性震颤（ET）是一种常染色体显性疾病，具有可变的表达和降低的外显率。常染色体显性特发性扭转性肌张力障碍（ITD）患者可能出现与ET难以区分的震颤，在某些家族中，该病的基因座已被定位到9q32 - 34，与精氨酸琥珀酸合成酶（ASS）基因座紧密连锁。我们对15个患有ET的家族进行了连锁分析，这些家族中有60名明确受影响的个体，使用ASS基因座和阿贝尔森基因座（ABL）处的二核苷酸重复多态性。在重组率为0.01时，ASS的累积连锁值为-19.5，ABL的累积连锁值为-10.8，并且在11个家族中分别排除了与ASS的紧密连锁。这些数据表明，ET基因与导致ITD的基因不是等位基因。
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