Identification of glaucoma susceptibility variants by exome sequencing in extended pedigrees showing prior evidence of gene segregation.

通过外显子组测序在显示基因分离的先前证据的扩展谱系中鉴定青光眼易感性变异。

• 批准号: nhmrc : 1044996
• 负责人: A/Pr Kathryn Burdon
• 金额: $ 46.28万
• 依托单位: Antarctic Climate and Ecosystems CRC, University of Tasmania
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2013
• 资助国家: 澳大利亚
• 起止时间: 2013-01-01 至 2016-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/identification-glaucoma-susceptibility-gene-segregation/111708
• 关键词: Identification; glaucoma; susceptibility; variants; exome

Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for treatment or diagnosis.

原发性开角型青光眼是一种慢性眼病，是世界范围内视力损害和失明的主要原因之一。这项研究将使用尖端的遗传学方法来研究来自青光眼大家族的271名个体的人类基因组（外显子组）的整个编码组成部分。我们以前的研究表明，这些家庭携带的遗传变异增加了疾病的风险。在这项研究中，我们的目标是确定这些基因，希望它们可以为治疗或诊断提供新的靶点。