Mutations in DJ-1 are rare in familial Parkinson disease
- 作者：Nathan Pankratz ; Michael W. Pauciulo ; Veronika E. Elsaesser ; Diane K. Marek ; Cheryl A. Halter ; Joanne Wojcieszek ; Alice Rudolph ; Clifford W. Shults ; Tatiana Foroud ; William C. Nichols and Parkinson St
- 关键词：Parkinson disease ; DJ-1 ; Multiplex ligation-dependent probe amplification ; MLPA
- 刊名：Neuroscience Letters
- 出版年：2006
- 期刊代码：52_03043940
- 类别：neu
- 出版时间：20 November 2006
- 卷：408
- 期：3
- 页码：209-213
- 文件大小：112 K
摘要
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.