A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype

被引：14

作者：

Pirkevi, C. ^{[1
]}

Lesage, S. ^{[2
,3
,4
]}

Condroyer, C. ^{[2
,3
,4
]}

Tomiyama, H. ^{[5
]}

Hattori, N. ^{[5
]}

Ertan, S. ^{[6
]}

Brice, A. ^{[2
,3
,4
,7
,8
]}

Basak, A. N. ^{[1
]}

机构：

[1] Bogazici Univ, Dept Mol Biol & Genet, Neurodegenerat Res Lab, TR-34342 Istanbul, Turkey

[2] INSERM, UMR S679, F-75013 Paris, France

[3] Univ Paris 06, UMR S679, F-75013 Paris, France

[4] Federat Inst Neurosci Res, IFR 070, F-75013 Paris, France

[5] Juntendo Univ, Sch Med, Dept Neurol, Tokyo 113, Japan

[6] Univ Istanbul, Dept Neurol, Cerrahpasa Fac Med, TR-34098 Istanbul, Turkey

[7] Univ Paris 06, Pitie Salpetriere Med Sch, F-75013 Paris, France

[8] Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France

来源：

NEUROGENETICS | 2009年 / 10卷 / 03期

关键词：

Parkinson's disease; Genetics; LRRK2; Haplotype; PARKINSONS-DISEASE; COMMON FOUNDER; IDENTIFICATION; PENETRANCE; FAMILIES;

D O I：

10.1007/s10048-009-0173-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the most common cause of familial autosomal dominant and also sporadic forms of Parkinson disease (PD). A common founder has been described for most Europeans and all North Africans and Jews; besides, two distinct G2019S LRRK2 haplotypes were found in a small proportion of European families and in Japanese PD patients. This study revealed a Turkish patient heterozygous for the G2019S mutation sharing the Japanese haplotype. To the best of our knowledge, it is the first time that the G2019S-associated Japanese haplotype has been reported in a different population.

引用

页码：271 / 273

页数：3

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