GJB2基因听力学表型与基因型关系分析

发布时间：2018-05-01 05:35

本文选题：GJB + 感音神经性　；参考：《中华耳科学杂志》2014年01期

【摘要】：目的分析GJB2基因的听力学表型与基因型关系。方法 2007年4月~2011年3月在解放军总医院就诊的具有完整听力学资料的1481名非综合征性耳聋患者,均进行GJB2编码区测序,并对其GJB2基因突变检出阳性率及与听力学表型关系进行统计学分析。结果 1481例患者GJB2基因阳性突变率为20.05%,双耳感音神经性聋组阳性突变率为20.66%,高于单耳耳聋组(2.08%)(P0.01)。在双耳感音神经性聋组中,极重度聋组中的GJB2阳性检出率最高(26.07%),其次是重度(18.12%)、中度(17.4%),轻度组为11.54%,各组间阳性检出率差异有统计学意义(P0.01)。对297例GJB2基因突变阳性患者听力曲线分型分析中,发现了10例上升型听力曲线(14.93%),但GJB2耳聋听力图仍以残余型(26.27%)、平坦型(25.16%)常见,各组阳性检出率差异有统计学意义(P0.01)。结论 GJB2基因突变者听力学表型呈多样性,在进行基因检测时,除重视双耳重度、极重度感音神经性聋或听力图为残余型和平坦型的人群外,也应该对单耳耳聋、双耳轻度听力损失或听力图为上升型感音神经性聋患者进行常规耳聋基因检测。
[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.
【作者单位】：解放军总医院第一附属医院耳鼻咽喉科;解放军总医院耳鼻咽喉/头颈外科解放军耳鼻咽喉科研究所聋病分子诊断中心;解放军总医院海南分院耳鼻咽喉头颈外科;
【基金】：国家十二五支撑项目(2012BAI09B00,2012BAI12B01) 国家自然科学基金重点项目(81230020);国家自然科学基金面上项目(81371096,81371098);国家自然科学基金青年项目(30801285) 卫生部行业专项基金(201202005) 北京市自然科学基金面上项目(7132177,7122172) 北京市科技新星计划(2009B34,2010B081) 国家高技术研究发展计划(“863”,2012AA020101)
【分类号】：R764.43

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