Parkin mutations in familial and sporadic Parkinson's disease among Indians

被引：44

作者：

Chaudhary, Shashi

Behari, Madhuri

Dihana, Maninder

Swaminath, Pazhayannur V.

Govindappa, Shyla T.

Jayaram, Sachi

Goyal, Vinay

Maitra, Arindam

Muthane, Uday B.

Juyal, R. C.

Thelma, B. K.

机构：

[1] Univ Delhi, Dept Genet, New Delhi 110021, India

[2] AIIMS, Dept Neurol, New Delhi, India

[3] NIMHANS, Dept Neurol, Bangalore, Karnataka, India

[4] Natl Inst Immunol, New Delhi 110067, India

[5] TCGA, New Delhi, India

来源：

PARKINSONISM & RELATED DISORDERS | 2006年 / 12卷 / 04期

关键词：

Parkin mutations; Parkinson's disease; Indian population; young onset PD; late onset PD; familial PD;

D O I：

10.1016/j.parkreldis.2005.12.004

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We observed a mutation frequency of 8.5% in Parkin gene among Indian PD patients based on sequencing and gene dosage analysis of its exons. We identified nine point mutations of which seven are novel and hitherto unreported. These mutations accounted for 14.3% familial PD, 6.9% young onset and 5.9% late onset sporadic PD. Of the 20 PD patients with mutations only two had homozygous mutations and one was a compound heterozygote. Homozygous exonic deletions were absent but heterozygous exon rearrangements were observed in 9.2% of patients (19% familial PD and 4.5% young onset sporadic PD). (c) 2006 Elsevier Ltd. All rights reserved.

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页码：239 / 245

页数：7

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