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Large-scale study on GJB2 gene mutation

Large-scale study on GJB2 gene mutation
GJB2基因突变的大规模研究
批准号:
21791585
负责人:
NAMBA Atsushi
金额:
$2.75万
依托单位:
依托单位国家:
日本
项目类别:
Grant-in-Aid for Young Scientists (B)
财政年份:
2009
资助国家:
日本
项目状态:
已结题
起止时间:
2009 至 2010

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中文摘要
翻译
在2009年5月31日至6月8日执行的Iwaki健康促进项目中,我们采集了832名参与者的血液样本并进行了纯音听力测定。在来自参与者的358份样本的基因分析中,27例(7.54%)检测到6个GJB2突变。所有27人都是基因携带者,没有任何症状。从这个结果可以认为GJB2突变导致的听力损失发生率约为0.14%,高于我们之前的假设。我们认为这种高倾向可能是这个地区的特点。
英文摘要
In the Iwaki Health Promotional Project executed on May 31st - June 8th of 2009, we collected blood samples from 832 participants and performed Pure-tone audiometry. Six GJB2 mutations were detected in 27 (7.54%) cases in the gene analysis performed on 358 samples from the participants. All of the 27 individuals were gene carriers and none had any symptoms. From this result the incidence of hearing loss caused by GJB2 mutation would be thought to be about 0.14%, higher than our previous assumption. We believe this high tendency may be a characteristic of this particular region.
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