Kartagener综合征合并分泌性中耳炎患者的基因诊断  

Gene diagnosis in patients with Kartagener syndrome induced chronic secretory otitis media

作　　者：张静[1,2] 白银[1] 尤少华[1] 籍灵超[1] 贾婧杰[1] 邱昕[1] 徐丛[1] 王洪田[1] 

机构地区：[1]解放军总医院耳鼻咽喉头颈外科,北京100853 [2]首都医科大学附属北京安贞医院耳鼻咽喉头颈外科,北京100029

出　　处：《中华耳科学杂志》2014年第1期41-44,共4页Chinese Journal of Otology

摘　　要：目的应用基因筛查技术进行kartagener综合征合并慢性分泌性中耳炎患者的基因诊断。方法将2010年1月至2013年12月就诊于解放军总医院耳鼻咽喉头颈外科的8例kartagener综合征合并慢性分泌性中耳炎患者作为研究对象。采集病史、绘制家系图,进行纯音测听、声导纳检查;应用sanger测序进行热点基因筛查,并对1例患者及其父母应用全外显子组测序进行基因筛查,应用Pomol软件对候选基因编码蛋白进行3D-蛋白结构模拟。结果 8例患者均伴有慢性分泌性中耳炎。应用sanger测序进行热点基因筛查的患者,均未发现所筛查位点基因突变;应用全外显子组测序的1例患者发现c.8030G>A(p.R2677Q)突变,位于基因DNAH5。结论慢性分泌性中耳炎患者应考虑kartagener综合征的可能性,以免漏诊误诊,基因筛查为该病提供了分子遗传学诊断证据。Objective To make a genetic diagnosis in patients with Kartagener syndrome induced chronic secretory oti- tis media （SOM）. Methods Eight patients with Kartagener syndrome and SOM were studied in Department of Otolaryngology Head Neck Surgery, Chinese PLA General Hospital from January 2010 to December 2013. Collection medical history, draw- ing family tree, pure tone audiometry, acoustic admittance examination; application of Sanger sequencing to screen hot gene, and 1 female patient and her parents were screen for hot gene mutations by whole exome sequencing. Candidate gene coding protein was 3D- protein structure simulation using Pomol software. Results 8 subjects were complicated with chronic secre- tory otitis media. Hot gene mutations were not found by Sanger sequencing. The female patient and her parents were found that c.8030G 〉 A （P. R2677Q） mutation which located in the DNAHS. Conclusion In order to avoid misdiagnosis, patients with chronic SOM should be considered the possibility of Kartagener syndrome. Gene screening may provide genetic evi- dence for the disease.

关 键 词：KARTAGENER综合征 原发性纤毛运动障碍 基因筛查 全外显子组测序 常染色体隐性遗传 

分 类 号：R349.6[医药卫生—基础医学] R764.21