Gene identification in familial orofacial clefts by next generation sequencing of exomes and p63 regulatory elements

通过外显子组和 p63 调控元件的下一代测序对家族性口颌裂进行基因鉴定

• 批准号: nhmrc : 1045465
• 负责人: A/Pr Jo Huiqing Zhou
• 金额: $ 38.92万
• 依托单位: Garvan Institute of Medical Research
• 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/gene-identification-familial-regulatory-elements/111752
• 关键词: Gene; identification; familial; orofacial; clefts

Cleft lip/palate (CL/P) is among the most common malformation disorders but the causes of this condition are largely unknown. We do know that gene mutations cause CL/P in some people. We have also shown that the p63 gene may influence the activity level of genes involved in CL/P by attaching to regulatory elements near these genes. Changes in as yet unidentified genes controlled by p63 are strong possibilities for the cause of CL/P. We will test these by next generation sequencing, a technique that analyses all human genes.

唇腭裂（CL/P）是最常见的畸形疾病之一，但这种情况的原因在很大程度上是未知的。我们知道基因突变会导致某些人的CL/P。我们还表明，p63基因可能会影响参与CL/P的基因的活性水平，通过连接到这些基因附近的调控元件。由p63控制的尚未鉴定的基因的变化是导致CL/P的很大可能性。我们将通过下一代测序技术（一种分析所有人类基因的技术）来测试这些变化。