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

我们调查了生活在冲绳群岛的EVA或PS患者的slc26a4突变频率。SLC26A4中IVS15+5G>A的替换是冲绳群岛PS和EVA患者中最常见的突变。这表明SLC26A4突变谱与日本和其他东亚国家的主要岛屿不同。我们对100名健康人进行了IVS15+5G>A替代检测作为对照。基于qRT-PCR结果，在IVS15+5G>A纯合子替代的患者中未发现SLC26A4的表达。我们的结果表明，IVS15+5G>A是一种致病替代，频繁替代的原因可能是共同祖先的存在。

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.