中国听力语言康复科学杂志Issue(3)：23-27,5.DOI:10.3969/j.issn.1672-4933.2011.03.003
常染色体显性遗传非综合征性耳聋家系临床听力学特征分析及致病基因定位研究
Audiological Features and Mapping of a Large Chinese Family with Autosomal Dominant Hereditary Nonsyndromic Hearing Loss
摘要
Abstract
objective To analyze the audiological and hereditary features and to map a DFNA locus of a six-generation Chinese kindred with autosomal dominant nonsyndromic hearing loss. Methods 121 members of this family received the case history inquisition, physical examination, pure-tone audiometry and acoustic immitance measurement. The data of this family were collected. All these data were collected for audiological and hereditary feature analysis.A pedigree diagram was drawn according to the hereditary information. Results The affected members showed postlingual, late-onset, progressive, bilateral moderate to severe sensorineural hearing impairment involving all frequencies. The hearing loss began at the high frequencies and lower frequencies became involved with increasing age, thus causing a flat audiogram.Conclusion This family show autosomal dominant inheritance and high-frequency sensorineural hearing impairment. Through genome-wide linkage analysis with SNP markers, the mutation is identified at 190384723-190669832 zone of chromosome 4.关键词
常染色体显性遗传/遗传性聋/连锁分析Key words
Autosomal dominant inheritance/ Hereditary hearing impairment/ Linkage analysis引用本文复制引用
卢宇,朱庆文,程静,李建忠,孙艺,冀飞,袁慧军..常染色体显性遗传非综合征性耳聋家系临床听力学特征分析及致病基因定位研究[J].中国听力语言康复科学杂志,2011,(3):23-27,5.基金项目
国家高技术研究发展计划("863"高科技项目)《耳聋出生缺陷的发生机制及综合干预技术的研究》(项目编号:2007AA02Z466) （"863"高科技项目）
