CAJ | 학술논문

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%）（P<0.01）。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（P<0.01）。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（P<0.01）。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。
목적：분석GJB2기인적은역학표형여기인형관계。방법2007년4월～2011년3월재해방군총의원취진적구유완정은역학자료적1481명비종합정성이롱환자，균진행GJB2편마구측서，병대기GJB2기인돌변검출양성솔급여은역학표형관계진행통계학분석。결과1481례환자GJB2기인양성돌변솔위20.05%，쌍이감음신경성롱조양성돌변솔위20.66%，고우단이이롱조（2.08%）（P<0.01）。재쌍이감음신경성롱조중，겁중도롱조중적GJB2양성검출솔최고（26.07%），기차시중도（18.12%）、중도（17.4%），경도조위11.54%，각조간양성검출솔차이유통계학의의（P<0.01）。대297례GJB2기인돌변양성환자은력곡선분형분석중，발현료10례상승형은력곡선（14.93%），단GJB2이롱은력도잉이잔여형（26.27%）、평탄형（25.16%）상견，각조양성검출솔차이유통계학의의（P<0.01）。결론 GJB2기인돌변자은역학표형정다양성，재진행기인검측시，제중시쌍이중도、겁중도감음신경성롱혹은력도위잔여형화평탄형적인군외，야응해대단이이롱、쌍이경도은력손실혹은력도위상승형감음신경성롱환자진행상규이롱기인검측。
Objective The aim of the present study was to characterize audiological profiles in patients with GJB2 mu-tation. Methods 1481 NSHI patients with integrated hearing test results were enrolled between April 2007 and March 2011. All patients were received GJB2 genetic test. Results GJB2 mutation positive rate of 1481 subjects was 20.05%. The posi-tive rate of GJB2 mutations in bilateral hearing loss group (20.66%) was statistically significantly higher than unilateral group (2.08%) ( P<0.01 ). In bilateral hearing loss group , the positive rate of GJB2 mutations was highest in the profound group (26.07%) , and then severe(18.12%) , moderate(17.4%) and mild group (11.54%) (P<0.01). The main audiogram shapes found in 297 GJB2 mutations were residual (26.27%) and flat (25.16%) audiograms. We also found low frequency ascending audio-gram shapes (14.93%) in GJB2 deafness. There were differences in the five audiogram shapes of the GJB2 mutations (p<0.01). Conclusions Our study shows that the probability of finding GJB2 mutations increases with the profound, bilateral hearing loss. And also increased in residual and flat audiograms. The cases of unilateral or mild bilateral hearing loss or with low fre-quency ascending audiogram shapes should be routinely tested for GJB2 mutations.