Analysing the genetic basis of hypospadias using Massively Parallel Sequencing

使用大规模并行测序分析尿道下裂的遗传基础

• 批准号: nhmrc : 1054432
• 负责人: Dr Elena Tucker
• 金额: $ 26.15万
• 依托单位: Murdoch Childrens Research Institute
• 依托单位国家: 澳大利亚
• 项目类别: Early Career Fellowships
• 财政年份: 2013
• 资助国家: 澳大利亚
• 起止时间: 2013-01-01 至 2021-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/analysing-genetic-basis-parallel-sequencing/112391
• 关键词: Analysing; genetic; basis; hypospadias; using

This project investigates the genetic cause of a relatively common defect in male genitalia, hypospadias, in which the penis opening is aberrantly located. Hypospadias affects 1 in ~250 males, usually requires surgery and can cause problems with intercourse and urination. Using new technologies to study patient DNA, we will identify mutations causing hypospadias and new genes involved in development of the male genitalia. This will lead to improved clinical diagnosis and management of patients.

这个项目调查了男性生殖器中一种相对常见的缺陷--阴茎开口异常的遗传原因--尿道下裂。每250名男性中就有一人患有尿道下裂，通常需要手术，并可能导致性交和排尿问题。使用新技术研究患者DNA，我们将识别导致尿道下裂的突变和涉及男性生殖器发育的新基因。这将改善患者的临床诊断和管理。