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| 语前聋患儿连接蛋白30基因突变 | |
| 引用本文： | 付四清,陈观明,董家曙. 语前聋患儿连接蛋白30基因突变[J]. 实用儿科临床杂志, 2007, 22(16): 1255-1256 |
| 作者姓名： | 付四清 陈观明 董家曙 |
| 作者单位： | 1. 华中科技大学同济医学院,医学遗传研究室 2. 华中科技大学同济医学院附属同济医院,耳鼻咽喉科,武汉,430030 3. 湖北省聋儿康复中心,听力室,武汉,430070 |
| 摘 要： | 目的分析46例语前聋患儿连接蛋白30（Connexin30,Cx30,GJB6）基因del（GJB6-D13S1830）突变。方法收集46例散发的语前聋患儿及听力正常健康对照30例血标本,提取DNA后利用聚合酶链反应（PCR）分析方法,筛查Cx30基因del（GJB6-D13S1830）突变。结果Cx30基因存在del（GJB6-D13S1830）杂合突变3例,余患儿及听力正常者无此突变。结论Cx30基因del（GJB6-D13S1830）突变可能是导致语前聋的原因之一。 |
| 关 键 词： | 语前聋 Connexin30基因 突变 |
| 文章编号： | 1003-515X（2007）16-1255-02 |
| 修稿时间： | 2007-06-03 |
Study on Mutation of Connexin30 Gene in Children with Prelingual Deafness |
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| FU Si-qing,CHEN Guan-ming,DONG Jia-shu. Study on Mutation of Connexin30 Gene in Children with Prelingual Deafness[J]. Journal of Applied Clinical Pediatrics, 2007, 22(16): 1255-1256 | |
| Authors: | FU Si-qing CHEN Guan-ming DONG Jia-shu |
| Affiliation: | 1. Department of Medical Genetics, Tongji Medical College, Huazhong University of Science and Technology ;2. Department of Otolarygo- logy, Tongji Hospital Affiliated to Tongjing Medical College of Huazhong University of Science and Technology, Wuhan 430030, China ;3. Audiometric Room, Rehabilitation Research Center for Deaf Children, Wuhan 430070, China |
| Abstract: | Objective To determine the prevalence and characteristics of the del(GJB6-D13S1830) in Connexin30(Cx30) gene in children with prelingual deafness.Methods Forty-six prelingual deaf children and 30 children with normal comprehension were obtained,and the del(GJB6-D13S1830)in the Cx30 gene were screened by polymerase chain reaction(PCR) in 2 groups.Results Three cases of 46 deaf children were found to have heterozygous del(GJB6-D13S1830) in Cx30 gene.The rest deaf children and the normal controls did not harbor this deletion.Conclusion The heterozygous del(GJB6-D13S1830) in Cx30 gene is one of causes of prelingual deafness. |
| Keywords: | prelingual deafness connexin30 gene mutation |
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