突尼斯、美国、欧洲和中东地区帕金森病家族共有的一种原始LRRK2单倍型。

A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease.

作者信息

Warren L, Gibson R, Ishihara L, Elango R, Xue Z, Akkari A, Ragone L, Pahwa Rajesh, Jankovic Joseph, Nance Martha, Freeman Alan, Watts Ray L, Hentati F

机构信息

Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, NC 27709, USA.

出版信息

Parkinsonism Relat Disord. 2008;14(1):77-80. doi: 10.1016/j.parkreldis.2007.02.001. Epub 2007 Apr 11.

DOI:10.1016/j.parkreldis.2007.02.001

PMID:17433753

Abstract

The Leucine-rich repeat kinase 2 (LRRK2) gene has been identified as a disease susceptibility gene for Parkinson's disease (PD), with G2019 (6055G>A) being the most frequent mutation. This mutation was present in 42% (38/91) of Tunisian families and 2% (1/39) of US families we have studied. A founding haplotype was identified in our data and it is shared by families from Tunisia, US, European and Middle Eastern countries. The most recent common founder of the mutation was dated to 2600 (95% CI: 1950-3850) years ago although additional studies are warranted to ensure an accurate age estimate for this mutation.

摘要

富含亮氨酸重复激酶2（LRRK2）基因已被确定为帕金森病（PD）的疾病易感基因，其中G2019（6055G>A）是最常见的突变。我们研究的突尼斯家族中有42%（38/91）存在这种突变，美国家族中有2%（1/39）存在这种突变。我们的数据中鉴定出一个奠基单倍型，突尼斯、美国、欧洲和中东国家的家族共享该单倍型。该突变的最近共同奠基者可追溯到2600（95%可信区间：1950 - 3850）年前，不过需要进行更多研究以确保对该突变进行准确的年代估计。