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Screening of Mutation in parkin gene - exon 3 for diagnosis of Parkinson's Disease

机译：帕金森病-外显子3突变的筛查以诊断帕金森氏病

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The present study focuses to screen the mutation in parkin gene (exon3) of Parkinson's diseased patients by collecting blood samples from 16 early onset Parkinson's disease patients in the age group of below 45 years. To detect these mutations, we performed an effective technique based on the real-time TaqMan PCR system. The amplified product was subjected to sequence analysis for confirming mutation in Parkin gene (exon.'i). The chromatogram was collected and subjected to sequence alignment using BLAST software. The sequenced exon 3 was visualized for the presence of Mutation. In this study, we have not identified any mutation in exon 3 and conclude that there are possibilities for the involvement of other exons in induction of this disorder to become the basis for a diagnostic test.
机译：本研究的重点是通过收集年龄在45岁以下的16名帕金森氏病早期发作患者的血液样本来筛选帕金森氏病患者的帕金森基因（exon3）突变。为了检测这些突变，我们基于实时TaqMan PCR系统执行了一项有效的技术。对扩增的产物进行序列分析以确认Parkin基因（外显子'i）中的突变。收集色谱图，并使用BLAST软件进行序列比对。观察测序的外显子3突变的存在。在这项研究中，我们还没有发现外显子3的任何突变，因此得出结论，其他外显子可能参与这种疾病的诱导，成为诊断测试的基础。

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