遗传性传导性聋家系的遗传学特征分析  

Genetic Analysis of Hereditary Conductive Hearing Impairment in a Chinese Family

作　　者：袁虎[1] 韩东一[1] 王秋菊[1] 赵亚丽[1] 兰兰[1] 

机构地区：[1]解放军总医院耳鼻咽喉-头颈外科解放军耳鼻咽喉研究所,北京100853

出　　处：《听力学及言语疾病杂志》2007年第3期177-180,共4页Journal of Audiology and Speech Pathology

基　　金：国家自然科学基金资助项目(NO.30370782及NO.30470956)

摘　　要：目的探讨遗传性传导性聋的家系遗传学特征。方法利用解放军总医院耳鼻咽喉研究所遗传资源网络所收集的遗传性聋家系资源,对发现的一个特殊的常染色体显性遗传的传导性听力损失伴上睑下垂大家系(028家系),追踪调查了四代成员44人,对现存家系成员中具有遗传信息的19人进行了全身体检及听觉系统功能的检查,对2名传导性听力损失患者进行鼓室探查术。结果9名患者表现为先天性传导性听力损失伴双侧上睑下垂,1名患者表现为单纯上睑下垂,2名患者表现为单纯传导性聋。对2名典型传导性聋患者进行的鼓室探查术发现,其传导性听力损失源于中耳发育畸形(听骨链畸形与镫骨固定)。家系图谱分析显示该家系为常染色体显性遗传性聋家系。结论028家系是目前国内发现的第一个传导性聋表型大家系,进一步的基因定位与克隆研究将为遗传性传导性聋分子病理机制的研究创造条件。Objective To investigate genetic characteristic of hereditary conductive hearing impairment in a Chinese family. Methods From the genetic data compiled by the otolaryngology institute of PLA general hospital, a large Chinese family with conductive hearing impairment and ptosis（ named pedigree 028）were identified. 44 individuals were located in the pedigree and demonstrated a sequence of the conductive hearing impairment herniated through four generations. The 19 members of the 028 pedigree were evaluated through otologic, audiologic, and physical examination, family history, and other testing, such as CT examination of the temporal bone. Results 9 individuals of 19 were diagnosed as having congenital conductive hearing impairment and bilateral ptosis. Among them one had only symptom of ptosis and two had only symptom of congenital conductive hearing loss. Tympanotomy of the two patients with conductive hearing loss indicated a cause of the malformations of the middle ear in the form of malformed ossicular chain and stapes fixation. Conclusion This pedigree described herein provides an excellent model for further study on the molecular mechanism of hereditary conductive hearing impairment.

关 键 词：遗传性聋 传导性聋 常染色体显性遗传 基因定位 

分 类 号：R764.44[医药卫生—耳鼻咽喉科]