越南帕金森病患者DJ-1基因相关突变分析;

N. M. Duc, Nguyen Trinh Duc Hieu, Ho Truong Giang, Leiwang Long, N. N. Minh, V. T. B. Thuỷ
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引用次数: 0

摘要

帕金森氏症(PD)的确切病因目前尚不清楚,但研究表明,环境和遗传是导致帕金森氏症的两个最大因素。DJ-1基因(属于PARK基因)是已知人群中帕金森病的主要病因。在越南,有必要对患者进行DJ-1基因突变频率的评估,以阐明该病的发病机制和遗传机制。在本研究中,我们确定了越南PD患者中DJ-1基因的突变频率。结果显示,我们在外显子5和外显子7检测到一些DJ-1突变。有趣的是,外显子5的Ala86Gly和Gln95Leu突变和外显子7的His138Pro突变导致氨基酸序列的改变,可能导致功能蛋白的改变。此外,在内含子4区和5区发生的20多个杂合或纯合突变中,我们发现3个纯合突变在患者和对照组中都频繁发生。突变分析的数据显示出模糊和不可预见的意义;然而,它们可能与PD的突变有关。因此,我们下一步的研究将集中在这些突变与患者某些临床症状的关系上。
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andquot;Analysis of the Associated Mutations of DJ-1 Gene to Parkinsonandrsquo;s Patients in Vietnamandquot;
The exact causes of Parkinson's disease (PD) are currently unknown, but studies have shown that the environment and genetics are the two factors that play the biggest role in Parkinson's disease. DJ-1 gene (belong to the PARK genes) is known as the main cause of Parkinson's disease in populations. In Vietnam, the evaluation of DJ-1 gene mutation frequency in patients is necessary to clarify the pathogenesis and genetic mechanisms of this disease. In this research, we identified the frequency mutations of the DJ-1 gene in Vietnamese PD patients. The results showed that we detected some DJ-1 mutations at exon 5 and exon 7. Interestingly, Ala86Gly and Gln95Leu mutations of exon 5 and His138Pro of exon 7 are found, which leads to a change in amino acid sequence and possibly a change in a functional protein. In addition, out of more than 20 heterozygous or homozygous mutations occurring in the intron regions 4 and 5, we found that 3 homozygous mutations occurred frequently in both patient and control. The data of mutation analysis has shown the ambiguous and unforeseeable meanings; however, they possibly associated with the mutation of PD. Therefore, the study of our next will focus on the relationship between these mutations with some clinical symptoms in patients.
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