甘肃省375例非综合征型聋患者聋病易感基因突变检测分析
The Detection of Deafness Predisposing Genes Mutation in 375 Nonsyndromic Hearing Loss Patients from Gansu Province
段世宏;郭玉芬;冯秀云;刘增平;袁逸铭;李勇;
1:兰州大学第二医院耳鼻咽喉头颈外科
2:甘肃省武威市中医院
1 Jiang Y,Huang S,Deng T,et al.Mutation spectrum of common deafness causing genes in patients with nonsyndromic deafness in the Xiamen Area,China[J].PLoSOne,2015,10:e0135088.
2段世宏,李勇,郭玉芬,等.青海省回、藏、土、蒙古族非综合征型聋患者致聋基因SNPscan法检测分析[J].听力学及言语疾病杂志,2016,24:330.
3中国残联网站:2006年第二次全国残疾人抽样调查表.http://www.cdcf.org.cn/sjcx/node-50872.htm.
4戴朴,袁永一,康东阳,等.1552例中重度感音神经性聋患者SLC26A4基因外显子7和8序列测定及热点突变分析[J].中华医学杂志,2007,87:2521.
5 Guo YF,Liu XW,Guan J,et al.GJB2,SLC26A4 and mitochondrial DNAA1555G mutations in prelingual deafness in Northern Chinese subjects[J].Acta Otolaryngol,2008,128:297.
6 Wilcox SA,Saunders K,Osborn AH,et al.High frequency hearing loss correlated with mutation in the GJB2gene[J].Hum Genet,2000,106:399.
7 Estivill X,Fortina P,Surrey S,et al.Connexin-26mutations in sporadic and inherited sensorineural deafness[J].Lancet,1998,351:394.
8 Wu CC,Chen PJ,Chiu YH,et al.Prospective mutation screening of three common deafness genes in a large Taiwanese cohort with idiopathic bilateral sensorineural hearing impairment reveals a difference in the results between families from hospitals and those from rehabilitation facilities[J].Audiol Neurotol,2008,13:172.
9 Dai P,Yu F,Han B,et al.GJB2 mutation spectrum in2,063 Chinese patients with nonsyndromic hearing impairment[J].J Transl Med,2009,7:26.
10 Reardon W,Coffey R,Chowdhury T,et al.Prevalence age of onset,and natural history of thyroid disease in Pendred syndrome[J].J Med Genet,1999,36:595.
11 Usami S,Abe S,Weston MD,et al.Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutation[J].Hum Genet,1999,104:188.
12 Campbell C,Cucci RA,Prasad S,et al.Pendred syndrome,DFNB4,and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations[J].Hum Mutat,2001,17:403.
13 Park HJ,Lee SJ,Jin HS,et al.Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans[J].Clin Genet,2005,67:160.
14 Wang QJ,Zhao YL,Rao SQ,et al.A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China[J].Clin Genet,2007,72:245.
15 Dai P,Li Q,Huang D,et al.SLC26A4c.919-2A>Gvaries among Chinese ethnic groups as a cause of hearing loss[J].Genet Med,2008,10:586
16 Yuan YY,Guo WW,Tang J,et al.Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4in nonsyndromic hearing loss patients with enlarged vestibular aqueduct in China[J].PLoS One,2012,7:e49984.
17 Guo YF,Liu XW,Xu BC,et al.Analysis of a large-scale screening of mitochondrial DNA m.1555A>G mutation in2417deaf-mute students in northwest of China[J].Genet Test Mol Biomarkers,2010,14:527.
18戴朴,刘新,于飞,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)---GJB2 235delC和线粒体DNA12SrRNA A1555G突变筛查报告[J].中华耳科学杂志,2006,4:1.
19 Malik SG,Pieter N,Sudoyo H,et al.Prevalence of the mitochondrial DNAA1555G mutation in sensorineural deafness patients in island Southeast Asia[J].Hum Genet,2003,48:480.
20刘晓雯,郭玉芬,关静,等.中国西北地区801例聋哑学生临床流行病学病因分析[J].听力学及言语疾病杂志,2008,16:99.
21 Li Q,Yuan YY,Dai P,et al.Rapid screening for the mitochondrial DNA C1-494T mutation in a deaf population in China using real-time quantitative PCR[J].Acta Otolaryngol,2012,132:814.
22管敏鑫,赵立东.与氨基糖甙类抗生素耳毒性相关的线粒体12SrRNA突变的流行病学特征[J].中华耳科学杂志,2006,4:98.