發(fā)布時(shí)間：2018-10-11 17:40

【摘要】：目的:GJB2相關(guān)性耳聾患者主要為常染色體隱性遺傳,對(duì)其導(dǎo)致的顯性突變及綜合征型聾報(bào)道較少,本研究總結(jié)分析中國(guó)感音神經(jīng)性聾患者中GJB2基因顯性遺傳突變情況。方法:收集解放軍總醫(yī)院耳鼻喉研究所聾病分子診斷中心GJB2基因相關(guān)耳聾患者1 641例,回顧性分析其GJB2基因突變情況,總結(jié)顯性遺傳突變譜,進(jìn)行相關(guān)聽(tīng)力、皮膚等相關(guān)表型的分析。結(jié)果:1 641例GJB2相關(guān)耳聾患者中9例為顯性遺傳(0.55%),其中較常見(jiàn)的突變?yōu)镽75W、G130V、R143Q、p.R184Q,聽(tīng)力表型主要為重度-極重度感音神經(jīng)性聾。其中1例患者表現(xiàn)為感音神經(jīng)性聾伴掌跖角化癥。結(jié)論:GJB2顯性遺傳在中國(guó)耳聾患者中存在一定比例,綜合征型較少見(jiàn),其聽(tīng)力表型差異較大,但主要為重度-極重度感音神經(jīng)性聾。
[Abstract]:Objective: GJB2 associated deafness is mainly autosomal recessive inheritance, but there are few reports of dominant mutation and syndromic deafness caused by it. This study summarized and analyzed the GJB2 gene dominant genetic mutation in Chinese patients with sensorineural hearing loss. Methods: a total of 1 641 patients with deafness associated with GJB2 gene were collected from the Institute of Deafness Research Institute of Otolaryngology Research Institute of Chinese PLA General Hospital. The mutation of GJB2 gene was analyzed retrospectively, and the dominant genetic mutation spectrum was summarized, and related hearing was obtained. Analysis of related phenotypes such as skin. Results: of the 1 641 patients with GJB2 associated deafness, 9 were dominant (0. 55%), and the most common mutation was R75WN G130VN R143QP. The hearing phenotype was mainly severe-very severe sensorineural hearing loss. One patient presented sensorineural deafness with palmoplantar keratosis. Conclusion: there is a certain proportion of GJB2 dominant inheritance in deafness patients in China, syndrome type is rare, the hearing phenotypic difference is great, but mainly severe to very severe sensorineural hearing loss.
【作者單位】： 解放軍總醫(yī)院耳鼻咽喉頭頸外科;解放軍總醫(yī)院海南分院耳鼻咽喉頭頸外科;
【基金】：科技支撐計(jì)劃(No:2012BAI09B00) 國(guó)際自然科學(xué)基金重點(diǎn)項(xiàng)目(No:81230020) 國(guó)家自然科學(xué)基金青年基金(No:81200751) 博士后面上項(xiàng)目(No:2013M542450)
【分類號(hào)】：R764.43

【共引文獻(xiàn)】

相關(guān)期刊論文 前5條

1 馬寧;金應(yīng)霞;黃元華;李崎;徐雯;盧偉英;馬燕琳;;海南地區(qū)一例NSHL患者的Cx26基因突變分析[J];中國(guó)熱帶醫(yī)學(xué);2010年08期

2 張錫寶,魏生才,王艷芳,李常興,徐曉,李季,何玉清,羅權(quán);角膜炎魚鱗病耳聾綜合征的GJB2基因突變的研究[J];食品與藥品;2005年11期

3 楊曉林;許政敏;;GJB2基因突變與NSHI患者臨床表型的相關(guān)性研究進(jìn)展[J];聽(tīng)力學(xué)及言語(yǔ)疾病雜志;2010年01期

4 朱一鳴;郭玉芬;劉曉雯;王艷莉;徐百成;紀(jì)育斌;歷建強(qiáng);李倩;王秋菊;;陜西省部分聾啞學(xué)生聾病易感基因分子流行病學(xué)研究[J];聽(tīng)力學(xué)及言語(yǔ)疾病雜志;2010年03期

5 陳興健;徐百成;陳遲;朱一鳴;劉曉雯;楊小龍;王艷莉;邊盼盼;郭玉芬;;SNPscan法用于新疆主要少數(shù)民族非綜合征型聾患者GJB2基因突變篩查的研究[J];聽(tīng)力學(xué)及言語(yǔ)疾病雜志;2014年06期

【相似文獻(xiàn)】

相關(guān)期刊論文 前10條

1 富群華;;金黃倉(cāng)鼠的半顯性突變[J];上海畜牧獸醫(yī)通訊;1983年03期

2 ;[J];;年期

3 ;[J];;年期

4 ;[J];;年期

5 ;[J];;年期

6 ;[J];;年期

7 ;[J];;年期

8 ;[J];;年期

9 ;[J];;年期

10 ;[J];;年期

相關(guān)重要報(bào)紙文章 前1條

1 ;科學(xué)家首次揭示：導(dǎo)致哺乳動(dòng)物不育的顯性突變[N];中國(guó)畜牧獸醫(yī)報(bào);2007年

，

本文編號(hào)：2264672