摘要
在进行中国人群的遗传性耳聋发病情况的调查中,发现了一个5代隔代遗传的聋哑家系(L021家系)。研究中调查家系成员64人,对其中的31人进行了系统的听力学检查,发现聋哑男性8位,听力表型为全聋及极重度聋,获得家系成员的血样31人份。家系图谱分析显示该家系为X连锁隐性遗传性耳聋家系,为先天性聋哑疾病分子病理机制的研究提供了模板。
In studying genetic factors in hearing loss among Chinese hearing-impaired population, a Chinese family with deaf-mute that had been reversion inherited through five generations was found (named pedigree L021). X linked recessive inheritance was hypothesized to be the transmission in this family. A total of 64 members in this family were investigated. Of these, audiometric evaluation was performed on 31 members, including 8 males with deaf-mute. Most affected individuals showed deafness or profound sensorineural hearing loss. Blood samples were obtained from 31 consented individuals in this family. Pedigree analysis indicates a X-linked recessive inheritance pattern in pedigree L021. The pedigree described herein provides an excellent model for further study on the molecular mechanism of congenital deaf-mute.
出处
《遗传》
CAS
CSCD
北大核心
2004年第5期579-583,共5页
Hereditas（Beijing)
基金
国家自然基金面上项目(No.A30170530及No.A30370782)联合资助~~
关键词
聋哑
遗传性耳聋
X连锁
基因定位
Deaf-mute
Hereditary Hearing Loss
X linked
Gene Mapping
