西北地区非综合征型耳聋患者GJB2、SLC26A4基因突变的分子流行病学研究
An Investigation of GJB2,SLC26A4 Gene Mutations in Nonsyndromic Hearing Loss in the Northwest of China
郭玉芬;刘晓雯;关静;徐百成;韩明鲲;赵翠;赵亚丽;王大勇;兰兰;鲍晓林;王秋菊;
1:兰州大学第二医院耳鼻咽喉-头颈外科
2:解放军总医院耳鼻咽喉-头颈外科、解放军总医院耳鼻咽喉科研究所
3:解放军总医院耳鼻咽喉-头颈外科、解放军总医院耳鼻咽喉科研究所
1 Mazzoli M,Van Camp G,Newton V,et al.Recommendationsfor the description of genetic and audiological data for familieswith nonsyndromic hereditary hearing impairment[J].Audio-logical Medicine,2003,1:148.
2 Wang QJ,Zhao YL,Rao SQ,et al.A distinct spectrum ofSLC26A4 mutations in patients with enlarged vestibular aque-duct in China[J].Clinical Genetics,2007,72:245.
3 Wu CC,Yeh TH,Chen PJ,et al.Prevalent SLC26A4 muta-tions in patients with enlarged vestibular aqueduct and/orMondini dysplasia:a unique spectrum of mutations in Taiwan,including a frequent founder mutation[J].Laryngoscope,2005,115:1 060.
4 Coyle B,Reardon W,Herbrick JA,et al.Molecular analysisof the PDS gene in pendred syndrome[J].Hum Mol Genet,1998,7:1 105.
5 Kenneson AK,Van Naarden B,Boyle C.GJB2(connexin 26)variants and nonsyndromic sensorineural hearing loss:a hugereview[J].Genet Med,2002,4:258.
6 Liu XZ,Xia XJ,Ke XM,et al.The prevalence of connexin 26(GJB2)mutations in the Chinese population[J].Hum Genet,2002,111:394.
7 Hwa HL,Ko TM,Hsu CJ,et al.Mutation spectrum of theconnexin 26(GJB2)gene in Taiwanese patients with prelin-gual deafness[J].Genet Med,2003,5:161.
8李庆忠,王秋菊,迟放鲁,等.中国散发听力损失患者中GJB2基因突变分子流行病学研究[J].中国眼耳鼻喉科杂志,2006,6:310.
9 Taylor JP,Metcalfe RA,Watson PF,et al.Mutations of thePDS gene,encoding pendrin,are associated with protein mis-localization and loss of iodide efflux:implications for thyroiddysfunction in Pendred syndrome[J].J Clin EndocrinolMetab,2002,87:1 778.
10 Campbell C,Cucci RA,Prasad S,et al.Pendred syndrome,DFNB4,and PDS/SLC26A4 identification of eight novel mu-tations and possible genotype-phenotype correlations[J].Hum Mutat,2001,17:403.
11 Tsukamoto K,Suzuki H,Harada D,et al.Distribution andfrequencies of PDS(SLC26A4)mutations in Pendred syn-drome and nonsyndromic hearing loss associated with en-larged vestibular aqueduct:a unique spectrum of mutations inJapanese[J].Eur J Hum Genet,2003,11:916.
12 Park HJ,Lee SJ,Jin HS,et al.Genetic basis of hearing lossassociated with enlarged vestibular aqueducts in Koreans[J].Clin Genet,2005,67:160.