Identification of genes for X-linked mental retardation.

X连锁智力低下基因的鉴定。

• 批准号: nhmrc : 1008077
• 负责人: Prof Eric Haan
• 金额: $ 45.02万
• 依托单位: The University of Adelaide
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2011
• 资助国家: 澳大利亚
• 起止时间: 2011-01-01 至 2014-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/identification-genes-x-mental-retardation/109276
• 关键词: Identification; genes; linked; mental; retardation.

We propose to identify novel heritable causes of intellectual disability using 22 large and well-characterised families from Australia. In these families we have refined the location of the genetic defect to the chromosome X and excluded the contribution of all so far known genes. We will achieve this using the technology of massive parallel sequencing. At the completion of the project we will have identified novel causes of intellectual disability and devised tests to identify them.

我们建议使用来自澳大利亚的22个特征良好的大家庭来确定智力残疾的新的可遗传原因。在这些家族中，我们对X染色体上的遗传缺陷进行了定位，排除了所有已知基因的影响。我们将使用大规模并行测序技术来实现这一点。在项目完成时，我们将确定智力残疾的新原因，并设计测试来确定它们。