Genetic analysis of parkin co-regulated gene (PACRG) in patients with early-onset parkinsonism

被引：13

作者：

Deng, H ^{[1
]}

Le, WD ^{[1
]}

Xie, WJ ^{[1
]}

Pan, TH ^{[1
]}

Zhang, X ^{[1
]}

Jankovic, J ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA

来源：

NEUROSCIENCE LETTERS | 2005年 / 382卷 / 03期

关键词：

early-onset parkinsonism; parkin co-regulated gene; variant; genetic analysis;

D O I：

10.1016/j.neulet.2005.03.034

中图分类号：

Q189 [神经科学];

学科分类号：

071006 [神经生物学];

摘要：

Parkin co-regulated gene (PACRG) is a recently identified gene which is transcriptionally co-regulated with parkin gene (PRKN) by a shared bidirectional promoter. To determine whether early-onset parkinsonism (EOP) is associated with PACRG mutation, we screened 112 patients with EOP and found three nucleotide variants: (1) T > C transition in intron 2 (nt 87004; NT-007422), (2) C > T transition (L214L) in exon 6 (nt 585706; NT-007422), and (3) T > A substitution in intron 5 (nt 585630; NT-007422), located 18 bp upstream from exon 6. Since none of these variations appear to be pathogenically relevant, our results suggest that mutation of PACRG plays little or no role in the development of EOP. (c) 2005 Elsevier Ireland Ltd. All rights reserved.

引用

页码：297 / 299

页数：3

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