Molecular epidemiolojial study on maple syrup urine disease in Philippine.
Molecular epidemiolojial study on maple syrup urine disease in Philippine.
批准号:
16406031
负责人:
MATSUO Masafumi
金额:
$8.51万
依托单位:
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
项目状态:
已结题
起止时间:
2004 至 2006
中文摘要
在菲律宾,枫糖浆尿病(MSUD)被频繁发现,并被认为是导致新生儿死亡的最重要原因之一。在这项研究中,部分通过新生儿筛查在马尼拉大都市进行了MSUD的鉴定。发现一种独特的缺失突变是一种常见的突变,携带者的发病率估计为每100人中有一例。为便于突变检测,建立了一次分析4个基因的DHPLC检测体系。利用该系统鉴定出了另一种新的常见突变。
英文摘要
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.
期刊论文(1)
专著(0)
科研奖励(0)
会议论文
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
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海外基金