中国人群帕金森病患者中新型 GIGYF2 基因突变。
Novel GIGYF2 gene variants in patients with Parkinson's disease in Chinese population.
机构信息
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.
出版信息
Neurosci Lett. 2010 Apr 5;473(2):131-5. doi: 10.1016/j.neulet.2010.02.037. Epub 2010 Feb 21.
The Grb10-Interacting GYF Protein-2 gene (GIGYF2), located in the chromosomal region 2q36-q37, has been reported as a PARK11 gene with a causal role in familial Parkinson's disease (PD) in Italian and French populations. However, there is no comprehensive study of GIGYF2 gene conducted in Chinese patients with PD from mainland China. The 27 coding exons and intron/exon boundaries of the GIGYF2 gene were sequenced in 300 sporadic patients with Parkinson's disease. Eight heterozygous and one homozygous novel missense variants were identified in nine patients with PD, and not in 300 controls. p.Leu580Phe locates in the GYF domain and might interrupt the potentially function of GIGYF2 protein. Another variant Gln979stop encodes a truncated protein. In conclusion, we identified nine novel variants in GIGYF2 gene, which might be associated with PD in the Chinese population.
Grb10-相互作用 GYF 蛋白-2 基因（GIGYF2）位于染色体 2q36-q37 区域，已被报道为意大利和法国人群家族性帕金森病（PD）的 PARK11 基因的致病基因。然而，目前还没有针对中国大陆散发性 PD 患者的 GIGYF2 基因的全面研究。我们对 300 名散发性帕金森病患者的 GIGYF2 基因的 27 个编码外显子和内含子/外显子边界进行了测序。在 9 名 PD 患者中发现了 8 个杂合和 1 个纯合的新错义变异，而在 300 名对照中没有发现。p.Leu580Phe 位于 GYF 结构域，可能会中断 GIGYF2 蛋白的潜在功能。另一个变异 Gln979stop 编码一个截断的蛋白。总之，我们在 GIGYF2 基因中发现了 9 个新的变异，这些变异可能与中国人 PD 有关。
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