摘要
编码缝隙连接蛋白的Connexcin(Cx)基因突变是非综合征型耳聋的分子遗传基础。本文从它们在组织和器官的表达、突变类型、引起耳聋的机制等方面的研究进展进行综述。探讨其可能的发病机制为基因诊断,预防及治疗提供了新的理论依据。
出处
《国际耳鼻咽喉头颈外科杂志》
2006年第6期371-375,共5页
International Journal of Otolaryngology-Head and Neck Surgery
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共引文献43
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3徐春宏,张海军,张艺飓,赵苏瑛,耿学侠,单云峰,单祥年.一个遗传性非综合征型耳聋家系的突变分析[J].中华医学遗传学杂志,2005,22(2):125-128.
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6戴朴,刘新,于飞,朱庆文,袁永一,杨淑芝,孙勍,袁慧军,杨伟炎,黄德亮,韩东一.18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DNA 12SrRNA A1555G突变筛查报告[J].中华耳科学杂志,2006,4(1):1-5. 被引量:167
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10袁永一,黄德亮,戴朴,朱秀辉,于飞,张昕,刘丽贤,韩东一.赤峰市特教学校耳聋患者GJB2和GJB3及GJB6基因突变分析[J].临床耳鼻咽喉头颈外科杂志,2008,22(1):14-17. 被引量:27
同被引文献40
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1李庆忠,王秋菊,韩东一,赵立东,刘穹,李丽娜,杨伟炎.GJB2基因突变始祖效应对中国耳聋人群的影响[J].解放军医学杂志,2005,30(5):394-396. 被引量:13
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2于飞,戴朴,韩东一.GJB2基因突变及语前遗传性非综合征性耳聋[J].国外医学(耳鼻咽喉科学分册),2005,29(6):359-361. 被引量:24
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3于飞,戴朴,曹菊阳,康东洋,刘新,张昕,李梅,刘丽贤,袁慧军,杨伟炎,吴柏林,韩东一.中国东北地区非综合征性耳聋患者GJB2基因的致聋突变分析[J].中国实验诊断学,2006,10(1):38-41. 被引量:14
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4王秋菊,韩东一,郭玉芬,李庆忠,袁虎,赵亚丽,兰兰,关静,徐百成,郭维维,纵亮,韩明鲲,王大勇,陈之慧,刘穹,杨伟炎,沈岩.遗传性耳聋资源收集保存及基因定位克隆[J].中国耳鼻咽喉头颈外科,2006,13(10):661-665. 被引量:15
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5王国建,戴朴,韩东一,金政策,李琦,陈静,孙勍,韩冰,袁永一,张昕,李梅,薛丹丹.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(2):114-115. 被引量:12
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6Steel KP. New interventions in hearing impairment[J]. BMJ, 2000, 320:622.
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7Marazita ML, Poloughman LM, Rawling SB, et al. Genetic epidemiological studies of earlyonset deafness in the US school age population[J]. AmJ Med Genet, 1993, 46: 486.
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8Van Camp G,Willems PJ ,Smith RJ. Nonsyndromic hearing impairment unparalleled heterogeneity[J]. Am J Hum Genet, 1997,60:758.
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9Finsterer J, Fellinger J. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing[J].Int J Pediatr Otorhinolaryngol, 2005,69 : 621.
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10Scou DA, Kraft ML. Connexin mutation and hearing loss[J].Nature, 1998,391 : 32.
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1王鹏,龚树生.连接蛋白基因与遗传性耳聋[J].中国医学文摘(耳鼻咽喉科学),2004,19(2):86-89.
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2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. 被引量:6
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3黄治物,吕静荣,吴皓.儿童听力筛查——新生儿听力筛查的重要补充[J].中国医学文摘(耳鼻咽喉科学),2012,27(6):297-299. 被引量:8
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4刘博.大前庭导水管综合征早期诊断的价值[J].中国医学文摘(耳鼻咽喉科学),2012,27(6):306-307.
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5孟玮,张瀛.非综合征型遗传性耳聋患者中GJB2基因的致病突变与多态性研究进展[J].中国医学文摘(耳鼻咽喉科学),2006,21(2):96-99. 被引量:2
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6纵亮,韩东一,王秋菊.DFNA4型耳聋基因定位克隆研究进展[J].国际耳鼻咽喉头颈外科杂志,2006,30(2):130-133. 被引量:2
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7李庆忠,王秋菊,韩东一,赵立东,刘穹,李丽娜,杨伟炎.GJB2基因突变始祖效应对中国耳聋人群的影响[J].解放军医学杂志,2005,30(5):394-396. 被引量:13
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8李幼瑾,杨军,杨涛,柴永川.先天性内耳畸形与SLC26A4基因相关性的研究[J].中国耳鼻咽喉头颈外科,2012,19(7):363-367. 被引量:1
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9李幼瑾,杨军,杨涛,柴永川.先天性内耳畸形与GJB2基因相关性分析[J].临床耳鼻咽喉头颈外科杂志,2013,27(16):881-883. 被引量:2
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10金晓云,吴皓.遗传性综合征性聋[J].国际耳鼻咽喉头颈外科杂志,2009,33(6):355-357.