Assessment of Candidate Loci in Neurological diseases

神经系统疾病候选基因座的评估

• 批准号: 7592083
• 负责人: Andrew B Singleton
• 金额: $ 72.89万
• 依托单位: NATIONAL INSTITUTE ON AGING
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/7592083
• 关键词: Alzheimer' s Disease; Code; Disease; Dystonia; Exons; Family; Genes; Individual; LRRK2 gene; Lead; Molecular; Mutation; Nature; PARK2 gene; PARK6 gene; PARK7 gene; Parkinson Disease; Patients; Primary Lateral Sclerosis; Process; Protocols documentation; Screening procedure; TOR1A gene; Variant; Work; alpha synuclein; insight; nervous system disorder; novel; research study

During the past year we have focussed much of our efforts on identifying the extent and nature of LRRK2 mutation and variation. This work has been performed primarily in Parkinsons disease patients. Unlike most protocols we have taken a full screening approach, sequencing all 51 coding exons of LRRK2. In addition we have continued assessment of PARK2, PARK6, PARK7, GCH1, SNCA and TOR1A in both Parkinsons disease and dystonia. This work has lead to the identification of several novel mutations.

在过去的一年里，我们将大部分精力集中在确定 LRRK2 突变和变异的程度和性质上。这项工作主要在帕金森病患者中进行。与大多数方案不同，我们采取了全面筛选方法，对 LRRK2 的所有 51 个编码外显子进行测序。此外，我们继续评估 PARK2、PARK6、PARK7、GCH1、SNCA 和 TOR1A 在帕金森病和肌张力障碍中的作用。这项工作导致了几种新突变的鉴定。