Causal relation between α-synuclein gene duplication and familial Parkinson's disease
Causal relation between α-synuclein gene duplication and familial Parkinson's disease
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DOI：
10.1016/s0140-6736(04)17104-3
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发表时间：
2004-09-25
期刊：
影响因子：
168.9
通讯作者：
Brice, A
中科院分区：
文献类型：
--
作者：
Ibáñez, P;Bonnet, AM;Brice, A
α-突触核蛋白基因（SNCA）与帕金森病的常染色体显性形式有关。我们通过94个半定量多重PCR筛选了119个来自这种罕见疾病家族的SNCA重复个体。两名患者有重复，这是通过分析基因内和侧翼微卫星标记证实。这两例患者的表型与特发性帕金森病没有区别，也没有非典型特征，与同一基因三重化的家族报告相反。这些结果表明，SNCA是更频繁地与家族性帕金森氏病比以前认为，并有一个明确的剂量效应根据该基因的额外拷贝数。
The alpha-synuclein gene (SNCA) has been implicated in autosomal dominant forms,of Parkinson's disease. We screened 119 individuals from families with this rare form of the disease for SNCA duplications by 94 semiquantitative multiplex PCR. Two patients had duplications, which were confirmed by analysis of intragenic and flanking microsatellite markers. The phenotype in both patients was indistinguishable from idiopathic Parkinson's disease and no atypical features were present, by contrast with reports of families with triplication of the same gene. These results indicate that SNCA is more frequently associated with familial Parkinson's disease than previously thought, and that there is a clear dosage effect according to the number of supernumerary copies of this gene.