Molecular epidemiolojial study on maple syrup urine disease in Philippine.

菲律宾枫糖浆尿病的分子流行病学研究。

• 批准号: 16406031
• 负责人: MATSUO Masafumi
• 金额: $ 8.51万
• 依托单位: Kobe University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 2004
• 资助国家: 日本
• 起止时间: 2004 至 2006
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-16406031/
• 关键词: Philippine; maple syrup urine disease; E2 gene; neonate

In the Phillipines maple syrup urine disease(MSUD) is frequently identified and is supposed to be one of the most important cause of neonatal death. In this study identification of MSUD has been conducted in the metro Manila partly by neonatal screening.A unique deletion mutation was found to be one of the common mutation and incidence of the carrier was estimated one in every 100 people. To fascilitate mutation detection DHPLC system that analyze 4 genes at one time was established. By using this system another novel and common mutation was identified.

在菲律宾，枫糖浆尿病（MSUD）经常被发现，并且被认为是新生儿死亡的最重要原因之一。在这项研究中，马尼拉大都会部分通过新生儿筛查对 MSUD 进行了鉴定。发现一种独特的缺失突变是常见突变之一，估计每 100 人中就有一个携带者的发病率。为了便于突变检测，建立了一次分析4个基因的DHPLC系统。通过使用该系统，发现了另一种新颖且常见的突变。

项目成果

A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease

• DOI: 10.1016/j.ymgme.2003.10.006
• 发表时间: 2004-02-01
• 期刊: MOLECULAR GENETICS AND METABOLISM
• 影响因子: 3.8
• 作者: Silao, CLT;Padilla, CD;Matsuo, M
• 通讯作者: Matsuo, M