日本帕金森病患者中LRRK2基因G2019S突变的鉴定与单倍型分析
Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease.
作者信息
Zabetian C P, Morino H, Ujike H, Yamamoto M, Oda M, Maruyama H, Izumi Y, Kaji R, Griffith A, Leis B C, Roberts J W, Yearout D, Samii A, Kawakami H
机构信息
Department of Neurology, University of Washington School of Medicine, Seattle, USA.
出版信息
Neurology. 2006 Aug 22;67(4):697-9. doi: 10.1212/01.wnl.0000227732.37801.d4. Epub 2006 May 25.
LRRK2 G2019S is the most common known cause of Parkinson disease (PD) in patients of European origin, but little is known about its distribution in other populations. The authors identified two of 586 Japanese patients with PD heterozygous for the mutation who shared a haplotype distinct from that observed in Europeans. This suggests that G2019S originated from separate founders in Europe and Japan and is more widely dispersed than previously recognized.
LRRK2基因G2019S突变是欧洲裔帕金森病（PD）患者中最常见的已知病因，但对其在其他人群中的分布情况知之甚少。作者在586名日本PD患者中发现了两名该突变的杂合子，他们拥有一种与欧洲人不同的单倍型。这表明G2019S突变在欧洲和日本起源于不同的始祖，且其分布比之前认为的更为广泛。
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