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首页> 外文期刊>The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques >The G2019S LRRK2 mutation is rare in Korean patients with Parkinson's disease.
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The G2019S LRRK2 mutation is rare in Korean patients with Parkinson's disease.

机译：G2019S LRRK2突变在韩国帕金森氏病患者中很少见。

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摘要

BACKGROUND: A number of causative mutations such as alpha-synuclein, parkin, UCHL1, Pink-1, DJ-1 have been identified in Parkinson's disease (PD). They are usually found in the familial cases. One mutation of great interest is the G2019S mutation in the LRRK2 gene, which has been reported in both familial and sporadic PD. Its prevalence has been reported to vary markedly among different races. We examined the prevalence of the G2019S mutation in the Korean PD population for genetic study planning. METHODS: We conducted a genetic analysis of the G2019S mutation by standard PCR and restriction digestion method. 453 PD patients were studied, 34% of whom had an age at onset of < 50 years and 3.8% had a positive family history. RESULTS: None of the 453 study subjects carried the G2019S mutation. CONCLUSIONS: Our result confirms previous reports that the G2019S mutation is rare among PD patients in the Asian population. This result supports the notion that the prevalence of this LRRK2 mutation is population specific, and that there may be a founder effect within western populations.
机译：背景：在帕金森氏病（PD）中已鉴定出许多致病突变，例如α-突触核蛋白，帕金，UCHL1，Pink-1，DJ-1。它们通常在家族病例中发现。令人关注的一个突变是LRRK2基因中的G2019S突变，这在家族性PD和散发性PD中均已报道。据报道，其流行程度在不同种族之间存在显着差异。我们检查了韩国PD人群中G2019S突变的发生率，以进行基因研究计划。方法：我们通过标准PCR和限制性酶切方法对G2019S突变进行了遗传分析。研究了453名PD患者，其中34％的患者发病年龄<50岁，而3.8％的患者有阳性家族史。结果：453名研究对象均未携带G2019S突变。结论：我们的结果证实了先前的报道，即在亚洲人群的PD患者中很少出现G2019S突变。该结果支持以下观点，即该LRRK2突变的流行是特定于人群的，并且在西方人群中可能有创始人效应。

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