%0 Journal Article
%T Genetic Analysis in a Chinese Deaf-Mute Family with X linked Recessive Inheritance<br>X连锁隐性遗传聋哑（deaf-mute）家系的遗传学特征分析 Genetic Analysis in a Chinese Deaf-Mute Family with X linked Recessive Inheritance
%A WANG Qiu-Ju
%A YANG Wei-Yan
%A WU Zi-Ming
%A LI Qing-Zhong
%A GUO Wei-Wei
%A QIU Chun-Yan
%A <br>王秋菊
%A 杨伟炎
%A 吴子明
%A 郭维维
%A 李庆忠
%A 仇春燕WANG Qiu-Ju
%A YANG Wei-Yan
%A WU Zi-Ming
%A LI Qing-Zhong
%A GUO Wei-Wei
%A QIU Chun-Yan
%J 遗传
%D 2004
%I 
%X 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.
%K Deaf-mute
%K Hereditary Hearing Loss
%K X linked
%K Gene Mapping<br>聋哑
%K 遗传性耳聋
%K X连锁
%K 基因定位
%U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=3E23F50E071DF18E21B2F5AEE4F1FA5E&aid=A6C883DFDB4F6CD6&yid=D0E58B75BFD8E51C&vid=96C778EE049EE47D&iid=94C357A881DFC066&sid=57EA20F731155703&eid=7882A2973AA04DE8&journal_id=0253-9772&journal_name=遗传&referenced_num=4&reference_num=14