• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Ophthalmic genetics >Prevalence of 2314delG mutation in spanish patients with usher syndrome type II (USH2).
【24h】

Prevalence of 2314delG mutation in spanish patients with usher syndrome type II (USH2).

机译：西班牙II型综合征（USH2）患者中2314delG突变的患病率。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

The Usher syndrome (USH) is a group of autosomal recessive diseases characterized by congenital sensorineural hearing loss and retinitis pigmentosa. Three clinically distinct forms of Usher syndrome have so far been recognized and can be distinguished from one another by assessing auditory and vestibular function. Usher syndrome type II (USH2) patients have congenital moderate-to-severe nonprogressive hearing loss, retinitis pigmentosa, and normal vestibular function. Genetic linkage studies have revealed genetic heterogeneity among the three types of USH, with the majority of USH2 families showing linkage to the USH2A locus in 1q41. The USH2A gene (MIM 276901) has been identified: three mutations, 2314delG, 2913delG, and 4353-54delC, were initially reported in USH2A patients, the most frequent of which is the 2314delG mutation. It has been reported that this mutation can give rise to typical and atypical USH2 phenotypes. USH2 cases represent 62% of all USH cases in the Spanish population, and 95% of these cases have provided evidence of linkage to the USH2A locus. In the present study, the three reported mutations were analyzed in 59 Spanish families with a diagnosis of USH type II. The 2314delG was the only mutation identified in our population: it was detected in 25% of families and 16% of USH2 chromosomes analyzed. This study attempts to estimate the prevalence of this common mutation in a homogeneous Spanish population.
机译：Usher综合征（USH）是一组常染色体隐性遗传疾病，其特征是先天性感觉神经性听力损失和色素性视网膜炎。迄今为止，已经认识到三种临床上独特的Usher综合征形式，并且可以通过评估听觉和前庭功能来将它们区分开。 II型Usher综合征（USH2）患者患有先天性中度至重度非进行性听力损失，色素性视网膜炎和前庭功能正常。遗传连锁研究表明，三种类型的USH之间存在遗传异质性，大多数USH2家族在1q41中显示出与USH2A基因座的连锁。 USH2A基因（MIM 276901）已被识别：USH2A患者最初报道了三个突变，分别为2314delG，2913delG和4353-54delC，其中最常见的是2314delG突变。据报道，这种突变可引起典型的和非典型的USH2表型。在西班牙人口中，USH2病例占所有USH病例的62％，其中95％的病例提供了与USH2A基因座相关的证据。在本研究中，在59个诊断为USH II型的西班牙家庭中分析了三个报告的突变。 2314delG是我们人群中唯一鉴定出的突变：在25％的家庭和16％的USH2染色体中检测到了它。这项研究试图估计在西班牙同质人群中这种常见突变的患病率。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号