NEUROLOGICAL DISEASE GENE MAPPING DNA EPIOSODIC

神经系统疾病基因图谱 DNA episodicic

• 批准号: 3410638
• 负责人: MICHAEL LITT
• 金额: $ 14.76万
• 依托单位: OREGON HEALTH & SCIENCE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1988
• 资助国家: 美国
• 起止时间: 1988-02-01 至 1991-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3410638
• 关键词: ataxia; familial periodic paralysis; family; genetic mapping; human population genetics; human subject; molecular cloning; nucleic acid probes

We propose to map genes which cause the autosomal dominant neurological diseases episodic ataxia, familial periodic paralysis and paroxysmal dystonic choreoathetosis. These diseases are characterized by episodes of neurologic dysfunction interspersed with symptom-free intervals. For each of these diseases, we have access to families with multiple affected members totalling approximately 250 for all families. Informative families will be typed with cloned DNA probes derived from candidate genes and from arbitrary genomic regions that reveal restriction fragment length polymorphisms (RFLP) with polymorphism information contents (PIC) that generally exceed 0.5. Our proposed studies will contribute to the localization of one or more neurological disease genes and may also indicate to what extent genetic heterogeneity exists within these disease classes. These studies constitute the first step towards the ultimate goal of cloning the genes responsible for the disorders and characterizing the structures and functions of the abnormal gene products and their normal homologs.

我们建议绘制引起常染色体显性效果的基因 神经疾病发作性共济失调，家族性周期性瘫痪 和阵发性肌张力术。 这些疾病是 以神经功能障碍的发作为特征 与无症状的间隔。 对于每种疾病，我们都有 访问多个受影响成员的家庭 所有家庭约为250。 信息丰富的家庭将是 用克隆的DNA探针键入候选基因和 来自揭示限制片段的任意基因组区域 带有多态性信息的长度多态性（RFLP） 内容（PIC）通常超过0.5。 我们提出的研究 将有助于一个或多个神经系统的定位 疾病基因，也可能表明遗传在多大程度上 这些疾病类别中存在异质性。 这些研究 构成朝着克隆的最终目标的第一步 负责疾病的基因和表征 异常基因产物的结构和功能及其功能 正常同源物。