Pendred综合征基因热点突变筛查赤峰市聋哑学校大前庭水管综合征患者  

Patients suffered from enlarged vestibular aqueduct syndrome in Chifeng deaf and dumb school detected by Pendred's syndrome gene hot spot mutation screening

作　　者：戴朴[1] 朱秀辉 袁永一[1] 朱庆文[1] 滕国春 张昕[1] 刘丽贤[1] 王嘉陵[1] 冯勃[1] 翟所强[1] 康东洋[1] 刘新[1] 黄德亮[1] 

机构地区：[1]解放军总医院耳鼻咽喉头颈外科,北京100853 [2]内蒙古自治区赤峰市第二医院耳鼻咽喉科 [3]内蒙古自治区赤峰市第二医院医学影像中心

出　　处：《中华耳鼻咽喉头颈外科杂志》2006年第7期497-500,共4页Chinese Journal of Otorhinolaryngology Head and Neck Surgery

基　　金：国家自然科学基金资助项目(30572015);北京市自然科学基金资助项目(7062062);解放军总医院院长基金资助项目(03YZJJ007)

摘　　要：目的利用基因筛查方法调查赤峰地区聋哑儿童Pendred综合征(Pendred's syndrome, PDS)基因(SLC26A4基因)热点突变的发生频率,并通过颞骨CT检查证实基因筛查诊断大前庭水管综合征的可行性。方法调查对象来自赤峰市聋哑学校学生141例。所有受检患者均采集外周血并提取DNA,以序列分析方法检测PDS基因IVS7-2位点的A-G突变情况,发现PDS基因IVS7-2 A-G纯合或杂合突变均回访,进一步行颞骨CT检查以及甲状腺B超和甲状腺功能检查,进行基因筛查结果和颞骨CT检查结果的比较分析。结果PDS外显子7+8序列分析结果显示共有20例聋哑学生具有IVS 7-2 A-G突变。9例为纯合突变,11例为杂合突变。回访时除2例患者因健康原因未进行复查,其余18例聋哑学生接受颞骨CT检查,其中16例患者CT证实为典型的前庭水管扩大。16例患者甲状腺B型超声波显示6例患者甲状腺略大于正常,但无明显临床意义,甲状腺功能检查均未见明显异常。结论通过PDS基因热点突变的筛查可以发现大前庭水管综合征患者,基因筛查是辅助此病诊断的新型手段,此项技术在大规模耳聋患者的病因学筛查方面具有一定的优势。Objective To investigate the incidence of hot spot mutation of PDS gene by genetic screening testing method in Chifeng City, Inner Mongolia. The feasibility and effectiveness of genetic screening method in finding enlarged vestibular aqueduct syndrome were confirmed by temporal bone CT scan. Methods DNA were extracted from peripheral blood of 141 students of C hifeng. Deaf and Dumb school. PDS IVST-2 A-G mutation, the most common PDS mutation in Chinese population, was analyzed by direct sequencing for PDS exon 7, exon 8 with intron 7. The individuals found with homozygous or heterozygous PDS IVST-2 A-G mutation were given further temporal CT scan, ultrasound scan of thyroid and thyroid hormone assays. The results of PDS genetic screening and temporal bone CT scan were compared with each other. Results The sequencing results revealed twenty cases carrying PDS IVST-2 A-G mutation, of whom nine cases were homozygous mutation and eleven cases were heterozygous mutation. Eighteen cases underwent temporal bone CT scan except two cases that left the school due to other health problem. Sixteen cases were confirmed to be enlarged vestibular aqueduct syndrome （EVAS） by CT scan and the shape and function of thyroid were clinically normal by ultrasound scan of thyroid and thyroid hormone assays, respectively. Conclusions The patients suffered from EVAS can be diagnosed by the screening for the PDS hot spot mutation which has unique advantage in epidemiologic study in large scale deaf population. The preliminary data of this study suggested relatively high incidence of EVAS in Chifeng area.

关 键 词：基因 点突变 体层摄影术 X线计算机 前庭水管 聋 

分 类 号：R764[医药卫生—耳鼻咽喉科]