遗传 ›› 2004, Vol. 26 ›› Issue (5): 579-583.

• 论文 • 上一篇    下一篇

X连锁隐性遗传聋哑(deaf-mute)家系的遗传学特征分析

王秋菊;杨伟炎;吴子明;郭维维;李庆忠;仇春燕   

  1. 北京复兴路28号解放军总医院耳鼻咽喉-头颈外科,解放军耳鼻咽喉科研究所。北京 100853
  • 收稿日期:1900-01-01 出版日期:2004-10-10 发布日期:2004-10-10

Genetic Analysis in a Chinese Deaf-Mute Family with X linked Recessive Inheritance

WANG Qiu-Ju; YANG Wei-Yan; WU Zi-Ming; LI Qing-Zhong; GUO Wei-Wei; QIU Chun-Yan   

  1. Institute of Otolaryngology, Department of Otorhinolaryngology/ Head and Neck Surgery , Chinese PLA General Hospital, Beijing 100853, China
  • Received:1900-01-01 Online:2004-10-10 Published:2004-10-10

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。

关键词: 聋哑, 遗传性耳聋, X连锁, 基因定位

Abstract: 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.

Key words: Deaf-mute, Hereditary Hearing Loss;X linked, Gene Mapping