Shulskaya Marina V, Shadrina Maria I, Fedotova Ekaterina Yu, Abramycheva Nataliya Yu, Limborska Svetlana A, Illarioshkin Sergey N, Slominsky Petr A
a Department of Molecular Basics of Human Genetics , Institute of Molecular Genetics, Russian Academy of Sciences , Moscow , Russia.
b Department of Neurogenetics , Federal State Scientific Institution 'Scientific Center of Neurology' , Moscow , Russia.
Int J Neurosci. 2017 Sep;127(9):781-784. doi: 10.1080/00207454.2016.1255612. Epub 2016 Nov 16.
Mutations in PARK2 are one of the causes of Parkinson's disease (PD). Deletions and duplications/triplications of one exon or exon groups account for a large proportion of mutations in the gene. At the present time, it is still not fully clear whether heterozygous mutations cause the development of PD. Our study aimed at conducting screening for mutations in PARK2 in patients with a sporadic form of PD to clarify the role of PARK2 in the development of PD.
The cohort of 327 patients with PD was screened by quantitative real-time polimerase chain reaction (PCR) with subsequent Sanger sequencing.
It was found that a sufficiently large proportion of these patients (21 patients, 6.4%) were carriers of heterozygous deletions or duplications in PARK2. Analysis of PARK2 exon rearrangement carriers for the presence of point mutations in PARK2 did not reveal any variants with pathogenic significance.
Thus, our data indicate that heterozygous deletions and duplications can play an important role in the pathogenesis of PD and can be considered as dominant mutations with low penetrance.
PARK2基因的突变是帕金森病（PD）的病因之一。一个外显子或外显子组的缺失及重复/三倍体占该基因突变的很大比例。目前，杂合突变是否会导致PD的发生仍不完全清楚。我们的研究旨在对散发性PD患者进行PARK2基因突变筛查，以阐明PARK2在PD发病中的作用。
采用定量实时聚合酶链反应（PCR）及随后的桑格测序对327例PD患者进行筛查。
发现这些患者中有相当大比例（21例，6.4%）是PARK2杂合缺失或重复的携带者。对PARK2外显子重排携带者中PARK2点突变的分析未发现任何具有致病意义的变异。
因此，我们的数据表明，杂合缺失和重复可能在PD发病机制中起重要作用，可被视为低外显率的显性突变。
