Abstract：
:Parkin gene mutations are by far the most common mutations in both familial Parkinson's disease (PD) and sporadic PD. Approximately, 50% of parkin mutations is exon dosage mutations (i.e., deletions and duplications of entire exons). Here, we first established a MLPA assay for quick detection of parkin exon rearrangements. Then, we studied parkin exon dosage mutations in 755 Chinese sporadic PDdisease patients using the established MLPA assay. We found that there were 25 (3.3%) patients with exon dosage alterations including deletions and duplications, 20 (11.4%) patients with exon rearrangements in 178 early-onset patients, and 5 (0.86%) patients with exon rearrangement mutations in 579 later-onset patients. The percentage of individuals with parkin dosage mutations is more than 33% when the age at onset is less than 30 years old, but less than 7% when the age at onset is more than 30. In these mutations, deletion is the main mutational style, especially in exon 2-5. Our results indicated that exon dosage mutations in parkin gene might be the main cause for sporadic PD, especially in EOP.
journal_name
Neurosci Lettjournal_title
Neuroscience lettersauthors
Guo JF,Dong XL,Xu Q,Li N,Yan XX,Xia K,Tang BSdoi
10.1016/j.neulet.2015.07.046subject
Has Abstractpub_date
2015-09-14 00:00:00pages
47-51eissn
0304-3940issn
1872-7972pii
S0304-3940(15)30066-5journal_volume
604pub_type
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