Fine mapping and positional cloning of an X linked congenital nystagmus gene

X连锁先天性眼球震颤基因的精细定位和定位克隆

• 批准号: G0501759/1
• 负责人: Jay Self
• 金额: $ 23.19万
• 依托单位: University of Southampton
• 依托单位国家: 英国
• 项目类别: Fellowship
• 财政年份: 2006
• 资助国家: 英国
• 起止时间: 2006 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=G0501759%2F1
• 关键词: Fine; mapping; positional; cloning; linked

Congenital Idiopathic Nystagmus (CIN) causes rapid, involuntary, eye movements. It causes a significant visual problem and affects approximately 1 in 350 children. However, despite years of study, and the identification of one causative gene, the its pathogenesis is unknow. We have collected a large number of DNA samples and clinical details from patients with various forms of nystagmus which provides more chance than ever before of locating new genes for nystagmus and discovering how these genes function in health and can malfunction to cause nystagmus. Assesing the contribution of these genes to certain forms of nystagmus will instantly help some CIN children by allowing a simple genetic test and thus avoiding numerous invasive investigations. Furthermore, molecular biological techniques are being used to understand how the defective genes lead to uncontrolled eye movements. This knowledge will provide the first glimpses of the process underlying nystagmus but also may have relevance to many other ophthalmic and neurological diseases. It is hoped that this information will then lead to the design of novel therapies for these conditions.

先天性特发性眼球震颤(CIN)会导致快速、不自主的眼球运动。它会导致严重的视力问题，影响大约每350名儿童中就有1名。然而，尽管经过多年的研究，并确定了一个致病基因，但其发病机制尚不清楚。我们从各种形式的眼球震颤患者那里收集了大量的DNA样本和临床细节，这为我们提供了比以往任何时候都更多的机会来定位新的眼球震颤基因，并发现这些基因是如何在健康中发挥作用的，以及这些基因是如何故障导致眼球震颤的。评估这些基因对某些形式的眼球震颤的贡献，将允许进行简单的基因测试，从而避免大量侵入性研究，从而立即帮助一些CIN儿童。此外，分子生物学技术正被用来了解缺陷基因是如何导致眼球运动失控的。这一知识将提供眼球震颤潜在过程的第一次一瞥，但也可能与许多其他眼科和神经疾病相关。人们希望，这些信息将导致针对这些疾病的新疗法的设计。