新疆地区不同民族人群耳聋相关基因研究进展
杨曦;邹红云;赵华;
1:军事科学院军事医学研究院生命组学研究所
2:新疆军区总医院临床医学研究所
3:新疆军区总医院耳鼻咽喉头颈外科





1阮煜琳.全球3.6亿人有听力障碍世卫组织称半数可预防[EB/OL].com/jk/2013/02-28/4603468.shtml.
2第二次全国残疾人抽样调查领导小组,中华人民共和国国家统计局.2006年第二次全国残疾人抽样调查主要数据分析[J].中国康复理论与实践,2006,12:1013.
3 Popova DP,Kaneva R,Varbanova S,et al.Prevalence of GJB2mutations in patients with severe to profound congenital nonsyndromic sensorineural hearing loss in bulgarian population[J].Eur Arch Otorhinolaryngol,2012,269:1589.
4 Ma Y,Xiao Y,Bai X,et al.GJB2,SLC26A4,and mitochondrial DNA12SrRNA hot-spots in 156subjects with nonsyndromic hearingloss in Tengzhou,China[J].Acta Otolaryngol,2016,136:800.
5 Cordeiro-Silva Mde F,Barbosa A,Santiago M,et al.Mutation analysis of GJB2and GJB6genes in southeastern brazilians with hereditary nonsyndromic deafness[J].Mol Biol Rep,2011,38:1309.
6 Hearing loss:an important global health concern[J].The Lancet,2016,387:2351.
7 Imtiaz F,Taibah K,Ramzan K,et al.A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the saudi arabian population[J].BMC Med Genet,2011,4:91.
8新疆维吾尔自治区第二次全国残疾人抽样调查办公室编.第二次全国残疾人抽样调查资料(新疆卷)[M].北京:中国统计出版社,2007.455~458.
9晁瑾,钱君妍,崔荣琨.新疆遗传性耳聋基因筛查项目表明遗传性耳聋是导致我区患者听力残疾重要病因[N].新疆日报,2015,12月2日.
10李琦,方如平,黄德亮,等.新疆地区汉族和维吾尔族耳聋基因突变的比较研究[J].临床耳鼻咽喉头颈外科杂志,2010,24:11.
11陈俞,玛依拉·吐地,鲁红丽,等.新疆喀什地区维吾尔族耳聋人群常见基因突变的研究[J].中华耳鼻咽喉头颈外科杂志,2011,46:205.
12蔡小牛,李彦华.非综合征型遗传性聋与GJB2的研究近况及新疆地区的研究进展[J].中国中西医结合耳鼻咽喉科杂志,2014,22:77.
13孙捷,陈俞,张华,等.506例新疆莎车县非综合征型耳聋患者常见耳聋基因调查研究[J].中国耳鼻咽喉颅底外科杂志,2017,23:133.
14孙捷,陈俞,张华,等.新疆喀什地区629例非综合征型耳聋患者常见耳聋基因调查研究[J].临床耳鼻咽喉头颈外科杂志,2017,31:619.
15贺占军.专家建议:新生儿家长应为孩子进行早期听力检测和干预[EB/OL].http://news.sina.com.cn/c/2007-03-03/182311331307s.shtml.
16 Kelsell DP,Dunlop J,Stevens HP,et al.Connexin 26 mutations in hereditary non-syndromic sensorineural deafness[J].Nature,1997,387:80.
17 Ballana E,Ventayol M,Rabionet R,et al.Connexins and deafness homepage[EB/OL][2006-03-22].http://davinci.crg.es/deafness/.
18 Martínez AD1,Acu1a R,Figueroa V,et al.Gap-junction channels dysfunction in deafness and hearing loss[J].Antioxid Rcdox Signal,2009,11:309.
19张劲,李琦,戴朴,等.乌鲁木齐市特教学校重度感音神经性聋GJB2和线粒体基因常见突变调查[J].中华耳科学杂志,2007,5:60.
20李琦,戴朴,黄德亮,等.新疆地区维吾尔族和汉族非综合征性耳聋GJB2基因突变研究[J].中华医学杂志,2007,87:2977.
21满荣军,郭玉芬,刘晓雯,等.新疆少数民族和汉族聋哑学生GJB2基因和线粒体DNA12Sr RNA A1555G突变研究[J].中国耳鼻咽喉头颈外科,2009,16:190.
22 Tsukamoto K,Suzuki H,Harada D,et a1.Distribution and frequencies of PDS(SLC26A4)mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct:a unique spectrum of mutations in Japanese[J].Eur J Hum Genet,2003,11:916.
23李彦华,徐红霞,汪常伟,等.维吾尔族遗传性聋非综合征型GJB2基因突变与肾虚血瘀型的研究[J].陕西中医,2010,31:114.
24李彦华,江华,杨利娟,等.新疆维吾尔族和汉族非综合征型遗传性聋患者线粒体DNA 12SrRNA A1555G、GJB2及GJB3基因突变研究[J].中华耳鼻咽喉头颈外科杂志,2010,45:645.
25陈俞,赵娟,皮力东·库亚西,等.新疆不同民族耳聋人群耳聋基因常见突变的筛查[J].新疆医科大学学报,2011,34:850.
26盛国强,徐红霞,李彦华.新疆维吾尔族遗传性聋非综合征型GJB2基因突变与中医证型的关系[J].新中医,2013,45:101.
27 Dai P,Li Q,Huang D,et a1.SLC26A4c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss[J].Genet Med,2008,10:586.
28陈兴健,徐百成,陈迟,等.SNPscan法用于新疆主要少数民族非综合征型聋患者GJB2基因突变筛查的研究[J].听力学及言语疾病杂志,2014,22:577.
29李彦华,汪常伟,高东升,等.新疆维吾尔哈萨克族非综合征型遗传性聋患者GJB2基因突变与肾虚血瘀型的研究分析[J].新中医,2014,46:120.
30汪常伟,蔡小牛,邹广华,等.新疆哈萨克族非综合征型聋GJB2基因突变的研究分析[J].临床耳鼻咽喉头颈外科杂志,2014,28:676.
31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.
32 Kenneson A,Van Naarden Braun K,Boyle C.GJB2(connexin 26)variants and nonsyndromic sensorineural hearing loss:a review[J].Genet Med,2002,4:258.
33 Cryns K.A genotype-phenotype correlation for GJB2(connexin 26)deafness[J].J Med Genet,2004,41:147.
34 Richard G,Smith LE,Bailey RA,et al.Mutations in the human connexin Gene GJB3cause erythrokeratodermia variabilis[J].Nature Genet,1998,20:366.
35杜瑞丽,李慧武,赵学信,等.GJB3基因在新疆维汉两民族遗传性非综合征耳聋患者的突变分析[J].中国现代医药杂志,2009,11:1.
36李彦华,铁玲,徐红霞,等.新疆哈萨克族耳聋患者GJB3基因突变与肾虚血瘀型的研究[J].新中医,2013,45:84.
37李彦华,杨利娟,亚生江,等.新疆维族非综合征型遗传性耳聋肾虚血癖型与线粒体DNA 12SrRNA A1555G突变分析[J].新中医,2009,41:60.
38江华,李彦华,盛国强,等.新疆维吾尔族非综合征型遗传性聋患者线粒体DNA 12SrRNA A1555G突变分析[J].临床耳鼻咽喉头颈外科杂志,2010,24:439.
39李彦华,孙学芬,李惠武,等.维吾尔族耳聋肾虚血瘀型与mtDNA12srRNA基因突变相关性的研究[J].陕西中医,2010,31:1242.
40李彦华,汪常伟,徐红霞,等.新疆维吾尔族肾虚血瘀型耳聋患者线粒体DNA 12SrRNA、tRNASer(UCN)、tRNAleu(UUR)基因突变研究[J].新中医,2012,44:51.
41李彦华,汪常伟,魏妍慧,等.新疆维吾尔族肾虚血瘀型耳聋患者线粒体mtDNA12srRNA基因突变与中医遗传学的相关性探讨[J].广州中医药大学学报,2012,29:491.
42 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.
43李彦华,罗永海,魏妍慧,等.新疆维吾尔族耳聋患者线粒体tRNALeu(UUR)基因突变及其与肾虚血瘀型的研究[J].辽宁中医杂志,2011,38:1273.
44 Hulander M,Kiernan AE,Blomqvist SR,et al.Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi 1null mutant mice[J].Development,2003,130:2013.
45 Taylor JP,Metcalfe RA,Watson PF,et al.Mutations of the PDS gene,encoding pendrin,are associated with protein mislocalization and loss of iodide efflux:implications for thyroid dysfunction in Pendred syndrome[J].Clin Endocrinol Metab,2002,87:1778.
46 Pyle GM.Embryological development and large vestibular aqueduct syndrome[J].The Laryngoscope,2000,110:1837.
47 Wang QJ,Zhao YL,Ran SQ,et a1.A distinct spectrum of SLC26A4mutations in patients with enlarged vestibular aqueduct in China[J].Clin Genet,2007,72:245.
48 Park HJ,Shaukat S,Liu XZ,et a1.Origins and frequencies of SLC26A4(PDS)mutations in east and south Asians:global implications for the epidemiotogy of deafness[J].J Med Genet,2003,40:242.
49 Chen Y,Tudi M,Sun J,et al.Genetic mutations in nonsyndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang,China:a comparative study[J].Journal of Translational Medicine,2011,9:154.
50 Chen Y,Wang ZT,Wang ZY,et al.Targeted next-Ggeneration sequencing in uyghur families with non-syndromic sensorineural hearing loss[J].PLoS One.,2015,10:1.
51徐红霞,李彦华.新疆维吾尔族耳聋与中医证型分布的流行病学调查[J].新疆中医药,2014,32:103.