期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

海南地区一例NSHL患者的Cx26基因突变分析 被引量：1

Analysis of Cx26 gene mutation in a nonsyndromic hearing loss case in Hainan
原文传递
导出
摘要 目的分析非综合征型耳聋(Nonsyndromic hearing loss,NSHL)患者缝隙连接蛋白beta2(gap junction proteinbeta2,GJB2)基因的突变情况。方法采集患者外周静脉血,PCR法扩增患者GJB2的编码序列全长,纯化回收扩增产物,直接双向测序,分析患者GJB2基因的突变情况。结果基因分析发现,患者GJB2基因编码区存在三个位点的改变,分别是c.79G>A(p.V27I)纯合改变,c.341A>G(p.E114G)杂合改变和c.478G>A(p.G160S)杂合改变。结论携带多位点的复合改变79G>A+478G>A/79G>A+34lA>G与非综合征型耳聋发病可能存在一定相关性。 Aim To analyze GJB2 gene mutation involved in a patient with nonsyndromic hearing loss（NSHL）. Methods The coding region of GJB 2 gene was amplified by polymerase chain reaction（PCR）,purifying the PCR products, and sequencing directly. Sequences were analyzed by Chromas software to determine GJB 2 mutations in the patients. Results The sequencing of genomic DNA revealed 3 types of changes in the coding region of GJB 2 gene from the patient, included c. 79 G A homozygote,c. 341 A G heterozygote,c. 478 G A heterozygote. Conclusion The changes of 79GA＋478GA/79GA＋34lAG might be correlated with NSHL.
作者 马宁 金应霞 黄元华 李崎 徐雯 卢伟英 马燕琳
机构地区 海南医学院附属医院生殖与遗传研究所
出处 《中国热带医学》 CAS 2010年第8期949-951,共3页 China Tropical Medicine
关键词 非综合征型耳聋 缝隙连接蛋白beta2 多态 Nonsyndromic hearing loss GJB2 Polymorphism
分类号 R521.1 [医药卫生—内科学]
  • 相关文献

参考文献22

  • 1Marazita ML,Ploughman L,Rawlings B,et al . Genetic epidemiological studies of early-onset deafness in the U.S.school-age poptdation[J] . Am J Med Genet, 1993,46:486--491.
  • 2Kalatzis V,Petit C . The fundamental and medical impacts of recent progress in research on hereditary hearing loss [J] . Hum Mol Genet. 1998,7(10), Review : 1589-1597.
  • 3Morton CC . G-eneties,genomics and gene discovery in the auditory system [ J ]. Hum Mol Genet.2002,11 (10) : 1229-1240.
  • 4Posukh O,Pallares-Ruiz N,Tadinova V,et al . First molecular screening of deafness in the Altai Republic population[J] . BMC Med Genet.2005,6: 12-18.
  • 5Maeda Y,Fukushima K,Nishizaki K,et al . In vitro and in vivo suppression of GJB2 expression by RNA interference [J] . Hum Mol Genet.2005,14( 12 ) : 1641-1650.
  • 6肖晓光,严勇,徐丽,付四清.Connexin26基因与常染色体隐性非综合征性耳聋[J].国外医学（遗传学分册）,2003,26(2):110-112. 被引量：6
  • 7Kelsell DP,Dunlop J,Stevens HP,et al . Connexin 26 mutations in hereditary non-syndromie sensorineural deafness [J] . Nature, 1997,387 : 80-83.
  • 8Zelante L,GasParini P,Estivill X,et al . Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans [J] . Hum Mol Genet, 1997,6:1605-1609.
  • 9Green GE,Scott DA,Medonald JH,et al . Carrier rartes in the Midwestem United States for GJB2 mutation causing inherited deafness [ J ] . JAMA, 1999,281 (23) : 2211-2216.
  • 10Gasparini P,Estivill X,Volpini V,et al . Linkage of DFNB1 to nonsyndromic neurosensory autosomal -recessive deafness in Mediterranean families[J] . Eur J Hum Genet.1997,5:83-88.

二级参考文献32

  • 1吴伟锋,冯永,胡浩,潘乾,梁德生,龙志高,戴和平,蔡芳,邬玲仟,夏昆,夏家辉.运用变性高效液相色谱(DHPLC)对中国人非综合征性耳聋进行GJB2基因突变分析[J].中国耳鼻咽喉颅底外科杂志,2006,12(4):241-247. 被引量：5
  • 2郑文波 等.浙江大学学报：医学版,2000,29(2):55-57.
  • 3Van Camp G, Willems P J, Smith RJ. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet, 1997, 60(4): 758-764.
  • 4Morton NE. Genetic epidemiology of hearing impairment. Ann N YAcad Sci, 1991, 630: 16-31.
  • 5Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, Arslan E, Zacchello E Cx26 deafness: mutation analysis and clinical variability. J Med Genet, 1999, 36(11): 829-32.
  • 6Kumar NM, Gilula NB. The gap junction communication channel. Cell, 1996, 84(3): 381-388.
  • 7Lee MJ, Rhee SK. Heteromeric gap junction channels in rat hepatocytes in which the expression of connexin26 is induced. Mol Cells, 1998, 8(3): 295-300.
  • 8Kikuchi T, Kimura RS, Paul DL, Takasaka T, Adams JC. Gap junction systems in the mammalian cochlea. Brain Res Brain Res Rev, 2000, 32(1): 163-166.
  • 9Cohen-Salmon M, Ott T, Michel V, Hardelin JP, Perfettini I, Eybalin M, Wu T, Marcus DC, Wangemann P, Willecke K, Petit C. Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol, 2002, 12(13): 1106-1111.
  • 10Prasad S, Cucci RA, Green GE, Smith RJ. Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele vari- ants and two novel deafness-causing mutations (R32C and 645-648delTAGA). Hum Mutat, 2000, 16(6): 502-508.

共引文献103

同被引文献14

  • 1Moron CC, Nanee WE. Newborn hearing screening - a silent revolu- tion[J]. N Engl J Med,2006,354(20) : 2151 -2164.
  • 2徐晓冰.遗传性耳聋基因GJB2,PDS,线粒体1555A>G的突变研究及一种检测新方法的建立[M].复旦大学学报,2007.4.
  • 3Snoeekx RL,Huygen PL, Feldmann D,Marlin S,Denoyelle F, et al. GJB2 mutations and degree of hearing loss: a muhicenter study [ J ]. Am J Hum Genet 2005,77(6) : 945 N957.
  • 4Olga Posukh, et al. First molecular screening of deafness in the Altai Republic population[ J]. BMC Medical Genetics,2005, 6: 12.
  • 5Pu Dai, Fei Yu, Bing Han, et al. GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment [ J ]. Journal of Translational Medicine,2009, 7: 26.
  • 6满荣军.中国西北不同民族耳聋患者常见耳聋基因分子流行病学研究[M].兰州大学学报,2009.5.
  • 7纪育斌.中国耳聋人群常见基因分子流行病学特征及其影响因素的研究[M].中国人民解放军总医院军医进修学院报,2010.5.
  • 8林倩.新生儿及婴儿的听觉特性与山东地区耳聋热点基因突变及其听力学表现的研究[M].山东大学学报,2010.5.
  • 9Pandya A,Tekin M, Erdenetungalag R, et al. A unique spectrum ofalterations in the Cx-26 gene in deaf probands from Mongolia[J]. Eur J Hum Genet.2001.9: 388.
  • 10鲁雅洁,程洪波,邢光前,曹新,戴大春,陈智斌,冀强,魏钦俊,卜行宽.非综合征型耳聋GJB2基因和mtDNA 12SrRNA A1555G位点的突变分析[J].南京医科大学学报（自然科学版）,2008,28(7):855-860. 被引量：13

引证文献1

二级引证文献5

中国热带医学
2010年 第8期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部