常见耳聋基因在大连地区语前聋患者与耳聋高危人群中的检测分析
The Distribution of Common Deafness Genes in the Deafness Patients and the High Risk Population in Dalian
刘璟;牟书瑜;付敏;刘琳;崔玲;赵黎阳;柏桦;孙秀珍;别旭;
1:大连医科大学附属第二医院耳鼻咽喉头颈外科
2:大连市友谊医院耳鼻咽喉头颈外科





1 Morton CC,Nance WE.Newborn hearing screening-a silent revolution[J].N Engl J Med,2006,354:2151.
2 Kelsell DP,Dunlop J,Stevens HP,et al.Connexin 26mutations in hereditary non-syndromic sensorineural deafness[J].Nature,1997,387:80.
3 Kenneson A,Van Naarden Braun K,Boyle C.GJB2(connexin 26)variants and nonsyndromic sensorineural hearing loss:AHuGE review[J].Genetics in Medicine,2002,4:258.
4戴朴,于飞,刘新,等.18个省市聋校学生非综合征性聋病分子流行病学研究(I)[J].中华耳科学杂志,2006,4:1.
5 AlejandraP,Silvia D,SimonaR,et al.Functional assessment of allelic variants in the SLC26A4gene involved in Pendred syndrome and nonsyndromic EVA[J].Proc Natl Acad Sci USA,2008,105:18608.
6赵亚丽,王秋菊,李庆忠,等.95例前庭水管扩大核心家系SLC26A4基因特异突变图谱[J].听力学及言语疾病杂志,2008,16:171.
7孙宝春,代志瑶,黄莎莎,等.GJB2、SLC26A4基因致病性突变与内耳CT表型关系的研究[J].中华耳科学杂志,2014,12:30.
8 Estivill X,Govea N,BarcelóE,et al.Familial progressive sensorineural deafness is mainly due to the mtDNA A1555Gmutation and is enhanced by treatment of aminoglycosides[J].American Journal of Human Genetics,1998,62:27.
9纪育斌,王秋菊,兰兰,等.国内线粒体DNA 12SrRNAA1555G突变的流行病学文献分析[J].听力学及言语疾病杂志,2010,18:6.
10 Xia JH,Liu CY,Tang BS,et al.Mutations in the gene encoding gap junction protain beta-3associated with autosomal domination hearing impairment[J].Nat Genet,1998,20:32.
11梁爽,孙喜斌,韩睿,等.非综合征型聋患者耳聋相关基因检测结果分析[J].听力学及言语疾病杂志,2011,19:10.
12陈俞,玛依拉·吐地,张华,等.新疆维吾尔族与汉族非综合征性耳聋患者四个耳聋基因突变谱的筛查[J].中华检验医学杂志,2010,11:1083.
13王秋菊.精准医学与聋病防控[J].中华耳科学杂志,2015,13:191.
14孟培,郝冬梅,张金艳,等.正常人群中遗传性耳聋基因携带者筛查及结果分析[J].中国优生与遗传杂志,2013(7):7.
15 Abe S,Noguchi Y,Kitamura K.What do patients with hereditary deafness think of genetic studies[J]?Auris Nasus Larynx,2010,37:422.