کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4345976 | 1296765 | 2010 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Mutation analysis of parkin and PINK1 genes in early-onset Parkinson's disease in China
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب (عمومی)
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چکیده انگلیسی
A series of 69 Han Chinese PD patients (including 66 index cases and 3 relatives) with early-onset Parkinson's disease (EOPD) were studied to assess the frequency of parkin and PINK1 gene mutations. Mutation analysis of the parkin gene was performed by real-time quantitative polymerase chain reaction (QPCR), denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing. For the PINK1 gene, DHPLC and DNA sequencing were used. Nineteen patients (including one relative) had mutation in the parkin gene, and the c.2T > C (p.M1T) was not reported previously. No mutation of the PINK1 gene was found. The onset age of the patients with mutations in the parkin was earlier than that of those without mutation (p < 0.05). We concluded that mutations in parkin gene are common in Chinese EOPD patients, and mainly are exon rearrangements, while mutation in PINK1 might be not common in Chinese EOPD patients.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuroscience Letters - Volume 477, Issue 1, 14 June 2010, Pages 19-22
Journal: Neuroscience Letters - Volume 477, Issue 1, 14 June 2010, Pages 19-22
نویسندگان
Bao-rong Zhang, Zheng-xiang Hu, Xin-zhen Yin, Miao Cai, Guo-hua Zhao, Zhi-rong Liu, Wei Luo,