新生儿聋病易感基因筛查的研究进展
李倩;王秋菊;
1:中国人民解放军总医院耳鼻咽喉头颈外科
2:解放军耳鼻咽喉研究所
1 http://www.who.int/mediacentre/factsheets/fs300/en.
2 Nance WE.The genetics of deafness[J].Ment Retard Dev Disabil Res Rev,2003,9:109.
3 Assachusetts.Universal Newborn Hearing Screening Program[R].2004Annual Report.
4 Fortnum HM,Summerfield AQ,Marshall DH,et al.Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening:questionnaire based ascertainment study[J].Bmj,2001,323:536.
5 Nance WE,Lim BG,Dodson KM.Importance of congenital cytomegalovirus infections as a cause for prelingual hearing loss[J].J Clin Virol,2006,35:221.
6 王秋菊.新生儿聋病基因筛查——悄然的革命[J].听力学及言语疾病杂志,2008,16:83.
7 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.
8 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,2007,1:21.
9 Morton CC,Walter E,Nance D.Newborn Hearing Screening—A Silent Revolution[J].N Engl J Med,2006,354:2 151.
10 http://hereditaryhearingloss.org.last update:May 19th,2014(aes)
11 Hamid M,Karimipoor M,Chaleshtori MH,et al.A novel355 -357delGAG Mutation and frequency of connexin-26(GJB2)mutations in Iranian patients[J].J Genet,2009,88:359.
12 王国建,戴朴,韩东一,等.非综合征型聋患者GJB2 235delC及线粒体DNA A1555G突变分析[J].听力学及言语疾病杂志,2007,15:114.
13 Putcha GV,Bejjani BA,Bleoo S,et al.A multicenter study of the frequency and distribution of GJB2and GJB6mutations in a large North American cohort[J].Genet Med,2007,9:413.
14 关静,郭玉芬,徐百成,等.中国西北地区部分语前聋患GJB2基因突变的分子流行病学研究[J].解放军医学杂志,2006,31:303.
15 李庆忠,王秋菊,赵立东,等.国人非综合征型遗传性聋患者GJB3基因突变分析[J].听力学及言语疾病杂志,2005,13:145.
16 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.
17 赵亚丽,王秋菊,兰兰,等.大前庭水管综合征家系SLC26A4基因突变分析[J].中华耳科学杂志,2006,4:322.
18 Guo YF,Liu XW,Guan J,et al.GJB2,SLC26A4and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects[J].Acta Otolaryngol,2008,128:297.
19 Yuan Y,You Y,Huang D,et al.Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China[J].J Transl Med,2009,7:79.
20 Lu J,Li Z,Zhu Y,,et al.Mitochondrial 12SrRNA variants in 1642Han Chinese pediatric subjects with aminoglycosideinduced and nonsyndromic hearing loss[J].Mitochondrion,2010,10:380.
21 Xia JH,Liu CY,Tang BS,et al.Mutations in the gene encoding gap junction protein beta-3associated with autosomal dominant hearing impairment[J].Nat Genet,1998,20:370.
22 纪育斌,兰兰,王大勇,等.中国非综合征型聋患者GJB2基因突变流行病学文献荟萃分析[J].听力学及言语疾病杂志,2011,19:323.
23 Zhao H,Young WY,Yan QF,et al.Functional characterization of the mitochondrial 12SrRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss[J].Nucleic Acids Res,2005,33:1 132.
24 Zaputovic S,Stimac T,Prpic I,et al.Molecular analysis in diagnostic procedure of hearing impairment in newborns[J].Croat Med J,2005,46:797.
25 Medica I,Rudolf G,Prpi′c I,et al.Incidence of the del35G/GJB2 mutation in Croatian newborns with hearing impairment[J].Med Sci Monit,2005,11:CR533.
26 Preciado DA,Lawson L,Madden C,et al.Improved diagnostic effectiveness with a sequential diagnostic paradigm in idiopathic pediatric sensorineural hearing loss[J].Otol Neurotol,2005,26:610.
27 Ealy M,Lynch KA,Meyer NC,et al.The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population[J].Laryngoscope,2011,121:1184.
28 Piatto VB,Oliveira CA,Alexandrino F,et al.Prospects for genetic hearing loss screening:35delG mutation tracking in a newborn population[J].J Pediatr(Rio J),2005,81:139.
29 Norris VW,Arnos KS,Hanks WD,et al.Does universal newborn hearing screening identify all children with GJB2(Connexin 26)deafness?Penetrance of GJB2deafness[J].Ear Hear,2006,27:732.
30 Nivoloni K,da Silva-Costa,Pomilio,et al.Newborn hearing screening and genetic testing in 8974Brazilian neonates[J].International journal of pediatric otorhinolaryngology,2010,74:926.
31 Tavartkiladze GA,Polyakov AV,Markova TG,et al.Genetic screening for hearing disorders in newborn infants in combination with audiological screening[J].Vestnik Otorinolaringologii,2010,3:15.
32 Wang QJ,Zhao YL,Rao SQ,et al.Newborn hearing concurrent gene screening can improve care for hearing loss:A study on 14,913Chinese newborns[J].Int J Pediatr Otorhinolaryngol,2011,75:535.
33 Wu CC,Hung CC,Lin SY,et al.Newborn genetic screening for hearing impairment:apreliminary study at a tertiary center[J].PLoS One,2011,6:e22314.
34 Chen G,Wang X,Fu S.Prevalence of A1555Gmitochondrial mutation in Chinese newborns and the correlation with neonatal hearing screening[J].Int J Pediatr Otorhinolaryngol,2011,75:532.
35 Zhang Z,Ding W,Liu X,et al.Auditory screening concurrent deafness predisposing genes screening in 10,043neonates in Gansu province,China[J].Int J Pediatr Otorhinolaryngol,2012,76:984.
36 Han B,Zong L,Li Q,et al.Newborn genetic screening for high risk deafness-associated mutations with a new Tetraprimer ARMS PCR kit[J].Int J Pediatr Otorhinolaryngol,2013,77:1 440.
37 Chen Y,Li L,Sun LH,et al.Newborn dried blood-spot screening of the p.V37Ivariant of GJB2by high-resolution melting analysis[J].Int J Pediatr Otorhinolaryngol,2014,pii:S0165-5876(14)00201-8.
38 Yao GD,Li SX,Chen DL,et al.Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns[J].Exp Ther Med,2014,7:218.
39 Zhang J,Wang P,Han B,et al.Newborn hearing concurrent genetic screening for hearing impairment-a clinical practice in 58,397neonates in Tianjin,China[J].Int J Pediatr Otorhinolaryngol,2013,77:1 929.