非综合征型聋患者耳聋相关基因检测结果分析
Deafness Gene Mutations Analysis in Cases with Non-syndromic Deafness
梁爽;孙喜斌;韩睿;焦玉勤;王艳霄;邹建华;颜晓蓉;于丽玫;
1:中国聋儿康复研究中心
2:广东省聋儿康复中心
3:福建省残疾人康复职业培训中心
摘要关键词基金项目(Foundation):作者参考文献1Li CX,Pan Q,Guo YG,et al.Construction of a multiplex al-lele-specific PCR-based universal array(ASPUA)and its application to hearing loss screening[J].Human Mutation,2008,29:306.
2于飞,戴朴,曹菊阳,等,中国东北地区非综合征性耳聋患者GJB2基因的致聋突变分析[J].中国实验诊断学,2006,10:38.
3戴朴,韩东一,袁慧军,等,基因诊断,耳科诊断领域的重大进步[J].中华耳科学杂志,2005,3:62.
4戴朴,黄德亮,王嘉陵,等,PDS基因检测—诊断大前庭水管综合征的新方法[J].中华耳科学杂志,2005,3:241.
5李璞,主编.医学遗传学[M].中国协和医科大学出版社,2003.56～62.
6Everett LA,Glaser B,Beck JC,et al.Pendred syndrome is caused by mutations in a putative sulphate transporter gene(PDS)[J].Nature Genet,1997,17:411.
7Coucke PJ,Van Hauwe P,Everett LA,et al.Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome[J].J Med Genet,1999,36:475.
8Coyle B,Reardon W,Herbrick JA,et al.Molecular analysis of the PDS gene in Pendred syndrome(sensorineural hearingloss and goitre)[J].Human Molecular Genetics,1998,7:1105.
9Estivill X,Fortina P,Surrey S,et al.Connexin-26mutations in sporadic andinherited sensorineural deafness[J].Lancet,1998,351:394.
10Denoyelle F,Weil D,Maw MA,et al.Prelingual deafness:high prevalence of a30del G mutationin the connexin26gene[J].Hum Mol Genet,1997,6:2173.
11于飞,韩东一,戴朴,等.1190例非综合征耳聋患者GJB2基因突变序列分析[J].中华医学杂志,2007,87:4.
12徐悦凡,任鲁风,宋文芹,等中国人非综合征型听力损失患者Cx26基因的突变分析[J].中华耳鼻咽喉科杂志,2002,37:348.
13郑文波,罗建红,郦云,等.中国人语前非综合征性耳聋患者GJB2基因突变分析[J].中华儿科杂志,2000,38:610.
14柯肖枚,路远,刘玉和,等.Connexin26基因突变与国人遗传性无综合征耳聋相关性分析[J].中华耳鼻咽喉科杂志,2001,36:163.
15Fischel-Ghodsian N,Prezant TR,Chaltraw W,et al.Mi-tochondrial mutations:A common predisposing factor in a aminoglycoside ototoxicity[J].Am J Otolaryngol,1997,18:173.
16Fischel-Ghodsian N.Mitochondrial mutations and hearing loss:Paradigm for mitochondrial genetics[J].Am J Hum Genet,1998,62:15.
17戴朴,杨伟炎,韩东一,等.Prev-DAF试剂盒分析线粒体基因1555A-G突变[J].中华耳科学杂志,2004,2:37.
18Zhao H,Li R,Wang Q,et al.Maternally inherited amin-oglycosideinduced and non-syndromic deafness is associated with the novel C1494T mutation in the mitochondrial12S rRNAgene in a large Chinese family[J].AmJ Hum Genet,2004,74:139.