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| GJB2基因突变导致非综合征性耳聋的特点及JL055小家系 | |
| 引用本文： | 于飞,戴朴,韩东一,刘军,袁永一,刘新,康东洋,张昕,朱庆文,孙勍,袁慧军,杨伟炎. GJB2基因突变导致非综合征性耳聋的特点及JL055小家系[J]. 中国听力语言康复科学杂志, 2008, 0(3): 23-25 |
| 作者姓名： | 于飞 戴朴 韩东一 刘军 袁永一 刘新 康东洋 张昕 朱庆文 孙勍 袁慧军 杨伟炎 |
| 作者单位： | 解放军总医院耳鼻咽喉头颈外科,解放军总医院耳鼻咽喉科研究所,解放军总医院聋病分子诊断中心,北京,100853 |
| 基金项目： | 国家自然科学基金 , 国家自然科学基金 , 北京市自然科学基金 , 北京市自然科学基金 , 国家高技术研究发展计划(863计划) , 首都医学发展科研项目 , 解放军总医院科技创新基金 |
| 摘 要： | 目的利用JL055小家系分析GJB2基因突变导致非综合征性耳聋（non-syndromic hearing impairment，NSHI）的特点，为遗传咨询和产前诊断提供理论基础。方法对来自吉林聋哑学校的先证者JL055及其部分家属的血样，进行GJB2基因聚合酶链反应（polymerase chain reaction，PCR）扩增产物测序，检测GJB2基因的序列改变，对测序结果进行临床分析。结果JL055的基因型为35delG／299-300delAT，两个等位基因分别来自父系和母系。结论JL055家系的测序结果为遗传咨询和产前诊断提供了理论基础。 |
| 关 键 词： | GJB2基因 突变 非综合征性耳聋 |
| 文章编号： | 1672-4933(2008)03-0023-03 |
| 修稿时间： | 2007-12-05 |
Characteristics of non-syndromic hearing impairment induced by GJB2 gene mutation and family JL055 |
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| YU Fei,DAI Pu,HAN Dong-yi,LIU Jun,YUAN Yong-yi,LIU Xin,KANG Dong-yang,ZHANG Xin,ZHU Qing-wen,SUN Qing,YUAN Hui-jun,YANG Wei-yan. Characteristics of non-syndromic hearing impairment induced by GJB2 gene mutation and family JL055[J]. Chinese Scientific Journal of Hearing and Speech Rehabilitation, 2008, 0(3): 23-25 | |
| Authors: | YU Fei DAI Pu HAN Dong-yi LIU Jun YUAN Yong-yi LIU Xin KANG Dong-yang ZHANG Xin ZHU Qing-wen SUN Qing YUAN Hui-jun YANG Wei-yan |
| Affiliation: | YU Fei, DAI Pu, HAN Dong-yi, LIU Jun, YUAN Yong-yi, LIU Xin, KANG Dong-yang, ZHANG Xin, ZHU Qing-wen, SUN Qing, YUAN Hui-jun, YANG Wei-yan |
| Abstract: | Objective To analyze the characteristics of non-syndromic hearing impairment induced by GJB2 gene mutation in order to provide theoretical basis for genetic counseling and prenatal diagnosis. Methods Subjects consisted of proband JL055 from the Deaf School of Jilin and some family members. The blood samples were collected and genomic DNA was extracted by extraction kits. Using polymerase chain reaction (PCR), the code region of GJB2 gene was amplified. The mutations were detected by direct sequence analysis... |
| Keywords: | GJB2 gene Mutation Non-syndromic hearing impairment |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |