耳聋基因检测技术的临床应用进展

杜亚婷; 崔庆佳; 黄丽辉

doi:10.13201/j.issn.1001-1781.2016.08.025

耳聋基因检测技术的临床应用进展

- 1. 首都医科大学附属北京同仁医院北京市耳鼻咽喉科研究所耳鼻咽喉头颈外科学教育部重点实验室(首都医科大学)(北京, 100005);
- 2. 首都医科大学附属北京康复医院(北京工人疗养院)头颈疾病康复中心耳鼻喉科
基金项目:
首都临床特色应用研究专项基金(No:Z131107002213123)

首都医学发展科研基金项目(No:2009-1049)

详细信息

通讯作者: 黄丽辉,E-mail:huangpub@126.com

中图分类号: R764.43

收稿日期: 2015-11-09

Progress in the clinical application of gene detection technology of deafness

More Information

Corresponding author: HUANG Lihui, E-mail: huangpub@126.com

Received Date: 09 November 2015

摘要

- 聋 /
- 基因 /
- 新生儿
Abstract: Along with the development of modern science and technology,the clinical application of deafness gene detection technology is becoming more and more extensive.Gene detection technology has experienced the process from the gene chip technology to the first generation DNA sequencing technology, and then to the second generation DNA sequencing technology.They are widely used in diagnosis of hereditary deafness etiology in clinical practice. In recent years,they are further applicated in the detection of neonatal deafness gene screening,prenatal diagnosis and pre marital and pre pregnancy.This paper will reviews the significance, technology progress, clinical diagnosis and application of gene detection technology.
- deafness /
- genes /
- neonate

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参考文献(35)

[1]	MAHBOUBI H,DWABE S,FRADKIN M,et al.Genetics of hearing loss:where are we standing now[J]?Eur Arch Otorhinolaryngol,2012,269:1733-1745.
[2]	GREEN G E, SMITH R J, BENT J P,et al. Genetic testing to identify deaf newborns[J].JAMA,2000,284:1245-1245.
[3]	MORTON C C, NANCE W E.Newborn hearing screening——a silent revolution[J].N Engl J Med,2006,354:2151-2164.
[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(11):809-813.
[5]	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(2):83-88.
[6]	黄丽辉,韩德民.新生儿耳聋基因筛查的质控体系建立[J].中国耳鼻咽喉头颈外科,2015,22(2):60-62.
[7]	SANGER F,NICKLEN S,COULSON A R.DNA sequencing with chain-terminating inhibitors[J].Proc Natl Acad Sci U S A,1977,74:5463-5467.
[8]	SHENDURE J, JI H.Next-generation DNA sequencing[J]. Nat Biotechnol,2008,26:1135-1145.
[9]	徐百成, 郭玉芬, 王秋菊.常染色体隐性遗传非综合征性耳聋基因研究进展[J].中华耳科学杂志, 2006,4(2):140-145.
[10]	XIA J H,LIU C Y,TANG B S,et al.Mutations in the gene encoding gap junction protein beta-3 associated with autosoma dominant hearing impairment[J].Nat Genet,1998,20:370-373.
[11]	王国建,戴朴,韩东一,等.基因芯片技术在非综合征性耳聋快速基因诊断中的应用研究[J].中华耳科学杂志,2008,6(1):61-66.
[12]	袁永一,戴朴.聋病基因筛查和耳聋防控新手段[J]. 中国耳鼻咽喉头颈外科,2015,22(2):57-59.
[13]	SIEMERING K, MANJI S S, HUTCHISON W M, et al.Detection of mutations in genes associated with hearing loss using a microarray-basedapproach[J].J Mol Diagn,2006, 8:483-489.
[14]	周怡,刘海红,郝津生,等,15343例新生儿耳聋基因普遍筛查结果分析[J].中国听力语言康复科学杂志,2014,12(2):109-112.
[15]	封纪珍,李天洁,肖会者.5018例新生儿耳聋基因检测结果分析[J].临床儿科杂志,2015,33(2):196-197.
[16]	孙莲花,吴皓,杨涛,等.芯片检测结合测序技术在遗传性耳聋产前基因筛查与诊断中的应用[J].中华耳鼻咽喉头颈外科杂志,2012,47(12):991-995.
[17]	戴朴.遗传性耳聋的预防和阻断[J].中华医学杂志,2007,87(40):2811-2813.
[18]	王国建,张冠斌, 袁永一,等.十五项遗传性耳聋基因突变微阵列诊断芯片的临床应用研究[J].中华耳科学杂志,2014,12(1):6-10.
[19]	MAXAM A M,GILBERT W.A new method for sequeneing DNA[J].Proc Natl Acad Sci U S A,1977,74:560-564.
[20]	SMITH L M, FUNG S, HUNKAPILLER M W, et al.The synthesis of oligonucleotides containing an aliphatic amino group at the 5' terminus:synthesis of fluorescent DNA primers for use in DNA sequence analysis[J].Nucleic Acids Res,1985, 13:2399-2412.
[21]	崔庆佳,黄丽辉,阮宇,等.915例新生儿GJB2基因筛查单杂合突变测序结果分析[J].临床耳鼻咽喉头颈外科杂志,2015,29(13):1164-1167.
[22]	冯永,刘亚兰.从遗传性聋基因筛查到基因诊断——我们的路还有多远[J].中国耳鼻咽喉头颈外科,2015,22(2):55-56.
[23]	戴朴,于飞,康东洋,等.线粒体DNAl555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(10):769-773.
[24]	WEI X,JU X,YI X,et al.Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing[J].PLoS One,2011,6:e29500.
[25]	REHMAN A U,MORELL R J, BELYANTSEVA I A, et al. Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79[J].Am J Hum Genet,2010,86:378-388.
[26]	SIRMACI A,WALSH T,AKAY H, et al.MASP1 mutations in patients with facial,umbilical, coccygeal, and auditory findings of Carnevale,Malpuech, OSA, and Michels syndromes[J].Am J Hum Genet,2010,87:679-686.
[27]	HUEBNER A K,GANDIA M,FROMMOLT P,et al.Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss[J].Am J Hum Genet, 2011,88:621-627.
[28]	SHEARER A E,DELUCA A P,HILDEBRAND M S,et al.Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing[J].Proc Natl Acad Sci U S A,2010,107:21104-21109.
[29]	YANG T, WEI X, CHAI Y, et al.Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing[J].Orphanet J Rare Dis,2013,8:85-85.
[30]	林晓江,陈东野,吴皓,等.一个常染体显性非综合征型耳聋大家系的临床特征及79个已知耳聋基因的检测分析[J].中华耳鼻咽喉头颈外科杂志,2014,49(8):654-658.
[31]	范东艳,于姝媛,金鹏,等.西藏地区92例聋校藏族学生耳聋基因检测结果分析[J].中国听力语言康复科学杂志,2013,11(4):271-274.
[32]	刘穹,王秋菊,王荣光,等.WFS1基因在听神经病家系中的突变筛查[J].中国耳鼻咽喉头颈外科,2008,15(1):43-44.
[33]	能玲玲,董明敏.河南地区青年和儿童感音神经性聋患者中大前庭水管综合征的临床和基因诊断[J]. 中华耳科学杂志,2007,5(4):380-383.
[34]	MEHL A L, THOMSON V.The Colorado newborn hearing screening project, 1992-1999:on the threshold of effective population-based universal newborn hearing screening[J].Pediatrics,2002,109:E7.
[35]	LU Y, PENG H, JIN Z,et al.Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3(MKS3)[J]. PLoS One,2013,8:e73245.