人工耳蜗植入聋儿术前基因检测及家系分析

doi:10.3724/SP.J.1005.2008.01406

遗传 ›› 2008, Vol. 30 ›› Issue (11): 1406-1410.doi: 10.3724/SP.J.1005.2008.01406

人工耳蜗植入聋儿术前基因检测及家系分析

张初琴¹;陈波蓓¹;黄加云¹;孙冬梅²;陈迎迎¹;项松洁¹;管敏鑫^{2, 3, 4}

1. 温州医学院附属二院&附属育英儿童医院耳鼻喉科, 温州 325027;
2. 温州医学院浙江省医学遗传学重点实验室, 温州 325027;
3. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio 45229, USA;
4. Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA

收稿日期:2008-03-06 修回日期:2008-06-06 出版日期:2008-11-10 发布日期:2008-11-10
通讯作者: 陈波蓓

Genetic analysis of family constellation for cochlear implant recipients

ZHANG Chu-Qin¹;CHEN Bo-Bei¹;HUANG Jia-Yun¹;SUN Dong- Mei²;CHEN Ying-Ying¹;XIANG Song-Jie¹;GUAN Min-Xin^{2, 3, 4}

1. Department of Otorhinolsryngology, the Second Affiliated Hospital & Yuying Children’s Hospital of Wenzhou Medical College, Wenzhou 325027, China;
2. Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou 325027, China;
3. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio 45229, USA;
4. Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA

Received:2008-03-06 Revised:2008-06-06 Online:2008-11-10 Published:2008-11-10
Contact: CHEN Bo-Bei

摘要/Abstract

摘要： 摘要: 国内外研究表明GJB2、SLC26A4(PDS)和线粒体DNA(Mitochondrial DNA, mtDNA)的病理性突变导致了大部分的遗传性聋。文章收集了2006年4月~2007年9月接受人工耳蜗(Cochlear implant, CI)植入的14 例患儿及其父母的外周血, 应用基因诊断方法进行 GJB2、SLC26A4(PDS)和mtDNA 1555位点突变检测。结果显示, 35.7%的患儿检测到致病突变, 其中28.6%为GJB2基因突变, 类型均为235delC纯和突变, 其父母为携带GJB2 235delC的杂和子; 7.1%为mtDNA A1555G突变, 其母亲亦携带mtDNA A1555G突变。这表明CI 植入聋儿最常见的基因突变是GJB2 235delC突变, 其次是mtDNA A1555G突变, 通过对耳聋家系常见致病基因的检测和家系分析, 可以对优生优育及减少耳聋发病率提供科学准确的遗传信息。

关键词: 人工耳蜗植入, 突变检测, 基因, 耳聋, GJB2

Abstract: Abstract: GJB2, SLC26A4 (PDS) and mitochondrial DNA (mtDNA) have been associated with sensorineural hearing loss. In the present study, the clinical, genetic and molecular analysis of 14 cochlear implant recipients and their parents was studied from April 2006 to September 2007. Of the 14 subjects, 35.7% had gene mutations; 28.6% had homozygous GJB2 235delC mutation, whose parents carried heterozygous GJB2 235delC mutation; and 7.1% had mtDNA A1555G mutation, whose mother carried mtDNA A1555G mutation too. There was no SLC26A4 (PDS) mutation. These results strongly sug-gested that the mutation in GJB2 gene was a major cause of deafness in cochlear implant recipients and the mutation of mtDNA A1555G was another important cause. Genetic test of hot-spots and analysis of family constellation can offer an accurate genetic counseling to deaf family and reduce the incidence of hearing loss.

张初琴，陈波蓓，黄加云，孙冬梅，陈迎迎，项松洁，管敏鑫. 人工耳蜗植入聋儿术前基因检测及家系分析[J]. 遗传, 2008, 30(11): 1406-1410.

ZHANG Chu-Qin, CHEN Bo-Bei, HUANG Jia-Yun, SUN Dong-Mei, CHEN Ying-Ying, XIANG Song-Jie, GUAN Min-Xin. Genetic analysis of family constellation for cochlear implant recipients [J]. HEREDITAS, 2008, 30(11): 1406-1410.

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人工耳蜗植入聋儿术前基因检测及家系分析

Genetic analysis of family constellation for cochlear implant recipients

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