Pankratz Nathan, Pauciulo Michael W, Elsaesser Veronika E, Marek Diane K, Halter Cheryl A, Wojcieszek Joanne, Rudolph Alice, Shults Clifford W, Foroud Tatiana, Nichols William C
Indiana University Medical Center, Indianapolis, IN, USA.
Neurosci Lett. 2006 Nov 20;408(3):209-13. doi: 10.1016/j.neulet.2006.09.003. Epub 2006 Sep 25.
Mutations in DJ-1 (PARK7) are one cause of early-onset autosomal-recessive parkinsonism. We screened for DJ-1 mutations in 93 affected individuals from the 64 multiplex Parkinson disease (PD) families in our sample that had the highest family-specific multipoint LOD scores at the DJ-1 locus. In addition to sequencing all coding exons for alterations, we used multiplex ligation-dependent probe amplification (MLPA) to examine the genomic copy number of DJ-1 exons. A known polymorphism (R98Q) was found in five PD subjects, once as a homozygote and in the other four cases as heterozygotes. No additional missense mutations and no exon deletions or duplications were detected. Our results, in combination with those of previous studies, suggest that alterations in DJ-1 are not a common cause of familial PD.
DJ-1（PARK7）基因突变是早发性常染色体隐性帕金森病的病因之一。我们在样本中64个多发型帕金森病（PD）家系的93名患者中筛查DJ-1基因突变，这些家系在DJ-1基因座具有最高的家系特异性多点对数优势分数（LOD）。除了对所有编码外显子进行测序以查找改变外，我们还使用多重连接依赖探针扩增（MLPA）来检测DJ-1外显子的基因组拷贝数。在5名PD患者中发现了一个已知的多态性（R98Q），1例为纯合子，其他4例为杂合子。未检测到其他错义突变以及外显子缺失或重复。我们的结果与先前研究的结果相结合，表明DJ-1改变不是家族性PD的常见病因。
