SCA2 GENE AND GENE REPLACEMENT

SCA2 基因和基因替换

• 批准号: 6306698
• 负责人: Stefan M. PULST
• 金额: $ 0.1万
• 依托单位: LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-12-01 至 2000-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6306698
• 关键词: cerebellar ataxia /dyskinesia; clinical research; gene mutation; human subject; molecular pathology; tissue /cell culture; tissue resource /registry

The spinocerebellar ataxias are inherited disorders associated with unsteadiness of gait, speech problems, and motor incoordination. The goal of this study is to evaluate identify the genes responsible for SCA2, by looking for a specific type of mutations which the investigators hypothesize is responsible for this disease. The GCRC is assisting in the collection, processing, storage of samples, and establishment of lymphoblastoid cell lines obtained from SCA2 patients both here in Los Angeles as well as across the globe.

脊髓小脑性共济失调是一种遗传性疾病，与步态不稳、言语问题和运动不协调有关。这项研究的目标是通过寻找一种特定类型的突变来评估和识别导致SCA2的基因，研究人员假设这种突变是导致这种疾病的原因。GCRC正在协助收集、处理、存储样本，并建立从洛杉矶和全球各地的SCA2患者身上获得的淋巴母细胞系。