Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene

被引：14

作者：

Clark, Lorraine N.

Haamer, Eneli

Mejia-Santana, Helen

Harris, Juliette

Lesage, Suzanne

Durr, Alexandra

Janin, Sabine

Hedrich, Katja

Louis, Elan D.

Cote, Lucien J.

Andrews, Howard

Fahn, Stanley

Waters, Cheryl

Ford, Blair

Frucht, Steven

Scott, William

Klein, Christine

Brice, Alexis

Roomere, Hanno

Ottman, Ruth

Marder, Karen

机构：

[1] Columbia Univ, Dept Pathol, New York, NY 10032 USA

[2] Columbia Univ, Taub Inst Res Alzheimers Dis & Aging Brain, New York, NY USA

[3] Asper Biotech, Tartu, Estonia

[4] Columbia Univ, Gertrude H Sergievsky Ctr, New York, NY 10027 USA

[5] Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY USA

[6] Hop La Pitie Salpetriere, INSERM, U679, AP HP, Paris, France

[7] Univ Paris 06, Fac Med, Paris, France

[8] Univ Lubeck, Dept Neurol, Lubeck, Germany

[9] Columbia Univ, Coll Phys & Surg, Dept Psychiat, New York, NY USA

[10] Duke Univ, Med Ctr, Ctr Human Genet, Durham, NC USA

[11] Hop La Pitie Salpetriere, Dept Genet Cytogenet & Embryol, AP HP, Paris, France

[12] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA

[13] Columbia Univ, Dept Epidemiol Brain Disorders, New York State Psychiat Inst, New York, NY USA

来源：

MOVEMENT DISORDERS | 2007年 / 22卷 / 07期

关键词：

Parkin; Parkinson's disease; mutation; genotyping array; chip; genetic epidemiology;

D O I：

10.1002/mds.21419

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age-related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives. (C) 2007 Movement Disorder Society.

引用

页码：932 / 937

页数：6

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