Steinberger Daniela, Trübenbach Jutta, Zirn Birgit, Leube Barbara, Wildhardt Gabriele, Müller Ulrich
Institut für Humangenetik, Justus-Liebig Universität, Giessen, Germany.
Neurogenetics. 2007 Jan;8(1):51-5. doi: 10.1007/s10048-006-0069-6. Epub 2006 Nov 17.
We applied multiple ligation-dependent probe amplification (MLPA) to patients from three families with characteristic dopa-responsive dystonia (DRD) but no base change in the gene GCH1. We found a complete deletion of GCH1 in affected members of family 1, and partial deletions in affected individuals of family 2 (exons 4-6) and of family 3 (exons 2-6). The findings were confirmed by quantitative real-time PCR. Our investigations demonstrate the utility of MLPA for routine deletion analysis of GCH1 in DRD patients with no sequence changes in this gene.
我们对来自三个具有典型多巴反应性肌张力障碍（DRD）但GCH1基因无碱基变化的家族的患者应用了多重连接依赖探针扩增（MLPA）技术。我们发现家族1的受累成员中GCH1基因完全缺失，家族2（外显子4 - 6）和家族3（外显子2 - 6）的受累个体中有部分缺失。这些发现通过定量实时PCR得到了证实。我们的研究证明了MLPA在对该基因无序列变化的DRD患者进行GCH1基因常规缺失分析中的实用性。
