965例新生儿听力及聋病易感基因联合筛查结果分析
A Study of Universal Newborn Hearing Screening Combined with Deafness Predisposing Gene Screening in 965 Newborns
王莹;关兵;叶实明;徐丽;常玲美;于爱民;
1:扬州大学临床医学院耳鼻咽喉头颈外科
2:扬州大学医学院附属医院江苏省苏北人民医院耳鼻咽喉科
摘要关键词基金项目(Foundation):作者参考文献1 Okhakhu AL,Ibekwe TS,Sadoh AS,et al.Neonatal hearing screening in Benin City[J].International Journal of Pediatric Otorhinolaryngology,2010,74:1323.
2 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.
3 刘学忠,欧阳小梅,Denise Yan,等.中国人群遗传性耳聋研究进展[J].中华耳科学杂志,2006,4:81.
4 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.
5 曾云,姜丹,冯大飞,等.飞行时间质谱检测技术在非综合征型耳聋基因检测中的应用[J].中华耳鼻咽喉头颈外科杂志,2013,42:985.
6 许政敏,沈晓明,孙晓明.上海地区开展新生儿听力筛查工作回顾与展望[J].听力学及言语疾病杂志,2007,15:277.
7 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.
8 Stewart DL,Mehl A,Hall JW,et al.Universal newborn hearing screening with automated auditory brainstem response:a multisite investigation[J].J Perinatol,2000,20:S128.
9 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].中华耳鼻咽喉科杂志,2004,39:702.
10 Morton CC.Genetics,genomics and gene discovery in the auditory system[J].Hum Mol Genet,2002,11:1229.
11 Huculak C,Bruyere H,Nelson TN,et al.V37Iconnection 26allele in patients with sensorineural hearing loss:evidence of its pathogenicity[J].Am J Med Genet A,2006,140:2394.
12 Dai P,Yu F,Han B,et al.GJB2 mutation spectrum in 2063Chinese patients with nonsyndromic hearing impairment[J].J Transl Med,2009,7:26.
13 李军.新生儿聋病易感基因筛查2 455例分析[J].哈尔滨医药,2013,33:276.
14 Liu XZ,Xia XJ,Xu LR,et al.Mutations in connexin31underlie recessive as well as dominant non-syndromic hearing loss[J].Hum Mol Genet,2000,9:63.
15 戴朴,于飞,康东洋,等.线粒体DNA1555位点和GJB2基因及SLC26A4基因的诊断方法及临床应用[J].中华耳鼻咽喉头颈外科杂志,2005,40:769.
16 Gardner P,Oitmaa E,Messner A,et al.Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray:a new approach for new-born screening follow-up[J].Pediatrics,2006,118:985.
17 李隽,历建强,王智楠,等.678例新生儿听力和聋病易感基因联合筛查结果分析[J].听力学及言语疾病杂志,2010,18:419.