678例新生儿听力和聋病易感基因联合筛查结果分析
A Study of Universal Newborn Hearing Screening with Hearing and Deafness Predisposing Gene Screening in 678 Newborns
李隽;历建强;王智楠;徐忠强;兰兰;魏幼华;丁海娜;胡艳玲;陈平;乐伟琼;李娜;王秋菊;
1:武汉市妇女儿童医疗保健中心耳鼻咽喉科
2:中国人民解放军总医院耳鼻喉头颈外科中国人民解放军耳鼻咽喉科研究所
摘要关键词基金项目(Foundation):作者参考文献1韩德民,戚以胜,黄丽辉.新生儿及婴幼儿听力筛查[M].北京:人民卫生出版社,2003.167~168.
2 Petit C.Memorial lecture-hereditary sensory defects:Fromgenes to pathogenesis[J].Am J Med Genet,2004,130(A):3.
3王秋菊,赵亚丽,兰兰,等.新生儿聋病基因筛查实施方案与策略研究[J].中华耳鼻咽喉头颈外科杂志,2007,42:809.
4 Downs MP,Yoshinaga-Itano C.The efficacy of early identifi-cation and intervention for children with hearing impairment[J].Pediatr Clin North Am,1999,46:79.
5 Morton CC.Genetics,genomics and gene discovery in the au-ditory system[J].Hum Mol Genet,2002,11:1 229.
6郭玉芬,徐百成,韩东一,等.中国西北地区线粒体DNA12SrRNA A1555G和GJB2基因突变[J].中国耳鼻咽喉头颈外科,2006,13:666.
7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.
8袁慧军,姜泗长,杨伟炎,等.氨基糖甙类抗生素致聋家系线粒体DNA1555G点突变分析[J].中华耳鼻咽喉科杂志,1998,33:67.
9郑文波,罗建红,郦云,等.中国人语前非综合征性耳聋患者GJB2基因的突变分析[J].中华儿科杂志,2000,38:610.
10赵亚丽,李庆忠,翟所强,等.国人前庭水管扩大患者SLC26A4基因的特异性突变[J].听力学及言语疾病杂志,2006,14:93.
11贺鹭,曲成毅,孙喜斌.应用耳声发射技术对48 041名新生儿进行听力筛查的汇总分析[J].中国听力语言康复科学杂志,2005,(1):21.
12 Stewart DL,Mehl A,Hall JW,et al.Universal newborn hearingscreening with automated auditory brainstem response:A multi-site investigation[J].J Perinatol,2000,20:S128.
13卜行宽,莫玲燕,黄丽辉,等.2004年国际新生儿听力筛查诊断和干预会议侧记[J].中华耳鼻咽喉科志,2004,39:702.
14 Morton CC,Nance WE.Newborn hearing screening-a silentrevolution[J].N Engl J Med,2006,354:2 151.
15 Norris VW,Arnos KS,Hanks WD,et al.Does universalnewborn hearing screening identify all children with GJB2(Connexin 26)deafness?Penetrance of GJB2 deafness[J].Ear Hear,2006,27:732.
16王秋菊.新生儿聋病易感基因筛查的意义与策略[J].中国医学文摘耳鼻咽喉科学,2007,22:21.