大前庭水管综合征PDS基因突变检测  

Study on mutations of the PDS gene in large vestibular aqueduct syndrome

作　　者：雷雳[1] 韩德民[1] 于振坤[2] 诸小侬[2] 陈秀伍[2] 杜延顺[2] 赵丽萍[2] 程继龙[2] 

机构地区：[1]首都医科大学附属北京同仁医院耳鼻咽喉头颈外科,北京100730 [2]北京市耳鼻咽喉科研究所,北京100005

出　　处：《中国耳鼻咽喉头颈外科》2006年第3期169-171,共3页Chinese Archives of Otolaryngology-Head and Neck Surgery

基　　金：首都医科大学基础-临床结合科研基金(2001);北京市卫生局科学研究基金资助项目(2002)

摘　　要：目的检测大前庭水管综合征患者PDS基因突变位点,从遗传分子水平探讨该病的发病机制。方法收集18例散发大前庭水管综合征患者和12例听力正常健康对照个体外周血DNA样本共30份;PCR扩增研究对象PDS基因第6、9外显子,对PCR扩增产物直接测序分析。结果全部受检对象PDS基因第6、9外显子PCR扩增均获成功,测序分析发现18例大前庭水管综合征患者中1例PDS基因编码区611GC和612TG颠换,导致204密码子错义突变;12例听力正常者未发现任何突变位点。结论大前庭水管综合征患者存在PDS基因突变,对大前庭水管综合征PDS基因其它部位序列的研究,有助进一步测序分析揭示该病的实质。OBJECTIVE To analyze for mutations of the PDS gene in patients with sensorineural hearing loss associated with enlarged vestibular aqueduct and analyze the molecular pathogenesis of enlarged vestibular aqueducts. METHODS Eighteen sporadic cases of large vestibular aqueduct syndrome and twelve control individuals with normal hearing were included in this study. Exons 6 and 9 of the PDS gene in all subjects were amplified by polymerase chain reaction and analyzed by direct DNA sequencing. RESULTS Analysis revealed 2 single base changes in exon 6 of one patient with large vestibular aqueduct syndrome. One was a G→C transversion at nucleotide position 611, and the other was a T→G transversion at nucleotide position 612, resulting in a predicted Gly→Ala substitution at position 204. No mutation in exons 6 and 9 of the PDS gene was found in the PDS gene of the control individuals. CONCLUSION Mutations of the PDS gene are responsible for the large vestibular aqueduct syndrome. Analysis of the PDS leftover sequence in patients with large vestibular aqueduct syndrome is the next step in elucidating the complicated causes of this disease.

关 键 词：基因 突变 聋 前庭水管 

分 类 号：R764[医药卫生—耳鼻咽喉科] R764.3[医药卫生—临床医学]