Klein C, Hedrich K, Kabakçi K, Mohrmann K, Wiegers K, Landt O, Hagenah J, Schwinger E, Pramstaller P P, Ozelius L J, Gucuyener K, Aysun S, Demir E
Department of Neurology, Medical University of Lübeck, Germany.
Neurology. 2002 Dec 10;59(11):1783-6. doi: 10.1212/01.wnl.0000035629.04791.3f.
Most cases of dopa-responsive dystonia (DRD) are thought to be caused by mutations in the GCHI gene; however, by sequencing, mutations are found in only 40% to 60%. Recently, a single report identified, via Southern blot analysis, a large genomic GCHI deletion in a "mutation-negative" case. This report describes four families with DRD, two of which carry large deletions, thus confirming that deletions are an important subtype of GCHI mutations. These deletions were detected by quantitative duplex PCR that is amenable to DNA diagnostics.
大多数多巴反应性肌张力障碍（DRD）病例被认为是由GCHI基因突变引起的；然而，通过测序发现，只有40%至60%的病例存在突变。最近，一份报告通过Southern印迹分析在一例“突变阴性”病例中鉴定出一个大的基因组GCHI缺失。本报告描述了四个患有DRD的家族，其中两个家族携带大的缺失，从而证实缺失是GCHI突变的一种重要亚型。这些缺失通过适用于DNA诊断的定量双链PCR检测到。
