Research of geneticdistributionand clinical applicationin patients with enlarged vestibular aqueduct and Pendred syndrome in Okinawa islands.

冲绳岛前庭导水管扩大并Pendred综合征患者的遗传分布及临床应用研究。

• 批准号: 23791914
• 负责人: GANAHA Akira
• 金额: $ 2.75万
• 依托单位: University of the Ryukyus
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (B)
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2012
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23791914/
• 关键词: 耳科学; 前庭水管拡大; 難聴; 沖縄県; 遺伝子変異; 発現解析; IVS15+5G>A; 遺伝子解析; 遺伝子発現解析

We investigated the frequencies of SLC26A4mutations of patients with EVA or PS living in the Okinawa Islands. The substitution of IVS15+5G>A in SLC26A4 was the most common mutation in uniquely found in patients with PS and EVA in Okinawa Islands. This suggested that the spectrum of SLC26A4 mutation differed from main islands of Japan and other East Asian countries. We surveyed the substitution IVS15+5G>A in 100 healthy objects as control.Based on qRT-PCR results, expression of SLC26A4 was not identified in patients with the homozygous substitution of IVS15+5G>A.Our result suggested that IVS15+5G>A is a pathogenic substitution and the cause of the frequent substitution might be the existence of a common ancestor.

我们调查了居住在冲绳的伊娃或PS患者的SLC 26 A4突变频率。SLC 26 A4的IVS 15 +5G>A突变是冲绳PS和伊娃患者中最常见的突变。这表明，SLC 26 A4突变谱不同于日本和其他东亚国家的主要岛屿。我们以100例正常人为对照，检测了IVS 15 +5G>A突变，qRT-PCR结果显示，IVS 15 +5G>A突变的患者均未检测到SLC 26 A4的表达，提示IVS 15 + 5G>A突变是一种致病性突变，其频繁发生的原因可能与共同祖先的存在有关。

项目成果

沖縄県における前庭水管拡大症およびペンドレッド症候群の遺伝子解析

冲绳县前庭导水管扩大与Pendred综合征的遗传分析

• 发表时间: 2012
• 作者: Akira Ganaha;Tadashi Kaname;Kumiko Yanagi;Kenji Naritomi;Tetsuya Tono;Shin-ichi Usami;Mikio Suzuki;我那覇章
• 通讯作者: 我那覇章

沖縄県における前庭水管拡大症の遺伝学的検討

冲绳县前庭导水管扩大的遗传学研究

• 发表时间: 2011
• 作者: 長友雄作;實藤雅文;李守永;福本有里;村田憲治;保科隆之;鳥巣浩幸;石崎義人;原寿郎;我那覇 章
• 通讯作者: 我那覇 章

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.

• DOI: 10.1186/1471-2350-14-56
• 发表时间: 2013-05-24
• 期刊: BMC medical genetics
• 作者: Ganaha A;Kaname T;Yanagi K;Naritomi K;Tono T;Usami S;Suzuki M
• 通讯作者: Suzuki M

istinct and pathogenic substitution of IVS15+5G>A in the SLC26A4 gene in patients with enlarged vestibular aqueduct syndrome and Pendred syndrome inOkinawa islands.

冲绳岛前庭导水管扩大综合征和彭德雷德综合征患者 SLC26A4 基因中 IVS15 5G>A 的独特致病性取代。

• 发表时间: 2012
• 作者: Akira Ganaha;Tadashi Kaname;Kumiko Yanagi;Kenji Naritomi;Tetsuya Tono;Shin-ichi Usami;Mikio Suzuki;我那覇章;我那覇章
• 通讯作者: 我那覇章