發(fā)布時間：2018-05-01 05:35

  本文選題：GJB + 感音神經(jīng)性�。� 參考：《中華耳科學(xué)雜志》2014年01期

【摘要】：目的分析GJB2基因的聽力學(xué)表型與基因型關(guān)系。方法 2007年4月~2011年3月在解放軍總醫(yī)院就診的具有完整聽力學(xué)資料的1481名非綜合征性耳聾患者,均進行GJB2編碼區(qū)測序,并對其GJB2基因突變檢出陽性率及與聽力學(xué)表型關(guān)系進行統(tǒng)計學(xué)分析。結(jié)果 1481例患者GJB2基因陽性突變率為20.05%,雙耳感音神經(jīng)性聾組陽性突變率為20.66%,高于單耳耳聾組(2.08%)(P0.01)。在雙耳感音神經(jīng)性聾組中,極重度聾組中的GJB2陽性檢出率最高(26.07%),其次是重度(18.12%)、中度(17.4%),輕度組為11.54%,各組間陽性檢出率差異有統(tǒng)計學(xué)意義(P0.01)。對297例GJB2基因突變陽性患者聽力曲線分型分析中,發(fā)現(xiàn)了10例上升型聽力曲線(14.93%),但GJB2耳聾聽力圖仍以殘余型(26.27%)、平坦型(25.16%)常見,各組陽性檢出率差異有統(tǒng)計學(xué)意義(P0.01)。結(jié)論 GJB2基因突變者聽力學(xué)表型呈多樣性,在進行基因檢測時,除重視雙耳重度、極重度感音神經(jīng)性聾或聽力圖為殘余型和平坦型的人群外,也應(yīng)該對單耳耳聾、雙耳輕度聽力損失或聽力圖為上升型感音神經(jīng)性聾患者進行常規(guī)耳聾基因檢測。
[Abstract]:Objective to analyze the relationship between phenotype and genotype of GJB2 gene. Methods from April 2007 to March 2011, 1481 patients with non-syndromic deafness who were admitted to the PLA General Hospital were analyzed by GJB2 coding region sequencing. The positive rate of GJB2 gene mutation and its relationship with audiological phenotype were analyzed statistically. Results the positive mutation rate of GJB2 gene was 20.05 in 1481 patients and 20.66in the binaural sensorineural hearing loss group, which was higher than that in mono-ear deafness group (2.08). In the binaural sensorineural hearing loss group, the positive rate of GJB2 was the highest in the very severe group (26.07%), followed by the severe group (18.12%), the moderate group (17.4%) and the mild group (11.54%). The difference of positive rate among the groups was statistically significant (P 0.01). In the analysis of hearing curves of 297 patients with GJB2 gene mutation positive, 10 patients with ascending hearing curve were found to be 14.93, but the GJB2 deafness was still found in the residual type 26.2727 and flat type 25.16). There was significant difference in positive rate among the three groups (P 0.01). Conclusion the phenotypes of hearing mechanics of GJB2 gene mutants are diverse. In addition to the population with severe binaural hearing loss, extremely severe sensorineural deafness or those with residual and flat hearing patterns, monaural deafness should also be studied. Normal deafness genes were detected in patients with mild hearing loss or ascending sensorineural hearing loss.
【作者單位】： 解放軍總醫(yī)院第一附屬醫(yī)院耳鼻咽喉科;解放軍總醫(yī)院耳鼻咽喉/頭頸外科 解放軍耳鼻咽喉科研究所聾病分子診斷中心;解放軍總醫(yī)院海南分院耳鼻咽喉頭頸外科;
【基金】：國家十二五支撐項目(2012BAI09B00,2012BAI12B01) 國家自然科學(xué)基金重點項目(81230020);國家自然科學(xué)基金面上項目(81371096,81371098);國家自然科學(xué)基金青年項目(30801285) 衛(wèi)生部行業(yè)專項基金(201202005) 北京市自然科學(xué)基金面上項目(7132177,7122172) 北京市科技新星計劃(2009B34,2010B081) 國家高技術(shù)研究發(fā)展計劃(“863”,2012AA020101)
【分類號】：R764.43

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本文編號：1827983