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: Hirosaki University
• 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
• 起止时间: 2009 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-21791585/
• 关键词: GJB2; 難聴; 保因率; 大規模研究; 発生率

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.

在2009年5月31日至6月8日实施的岩城健康促进项目中，我们收集了832名参与者的血液样本，并进行了纯音测听。在对来自参与者的358个样本进行的基因分析中，在27例（7.54%）病例中检测到6个GJB2突变。所有27名患者都是基因携带者，没有任何症状。从这个结果来看，GJB2突变引起的听力损失的发生率约为0.14%，高于我们之前的假设。我们认为，这种高趋势可能是这一特定地区的一个特点。