Investigating the genetic cause of genital abnormalities in males

调查男性生殖器异常的遗传原因

• 批准号: nhmrc : GNT1054432
• 负责人: Dr Elena Tucker
• 金额: $ 29.96万
• 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 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/investigating-genetic-cause-abnormalities-males/1344567
• 关键词: Investigating; genetic; cause; genital; abnormalities

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.

这个项目调查了一个相对常见的男性生殖器缺陷的遗传原因，尿道下裂，其中阴茎开口是异常定位。每250名男性中就有1人患有尿道下裂，通常需要手术治疗，并可能导致性交和排尿问题。利用新技术研究患者DNA，我们将识别引起尿道下裂的突变和参与男性生殖器发育的新基因。这将导致改善临床诊断和患者的管理。