目的 探讨KCNQ1、Bax基因在耳聋患者中的表达及其与听力的关系.方法 选择耳聋患者80例,其中KCNQ1基因与Bax基因阳性者各40例,另外选择同期40例KCNQ1基因与Bax基因均为阴性患者作对照.分别比较KCNQ1基因及Bax基因阳性与阴性者平均听阈、最大言语测听识别率和镫骨肌反射、高刺激ABR及脑干诱发电位阳性率,并统计KCNQ1基因及Bax基因阳性者听力损失情况.结果 KCNQ1基因和Bax基因阳性者平均听阈显著高于KCNQ1基因和Bax基因阴性者(均P＜0.01),最大言语测听识别率、蹬骨肌反射阳性率、高刺激ABR阳性率和脑干诱发电位阳性率均显著低于KCNQ1基因和Bax基因阴性者(均P＜0.01),KCNQ1基因及Bax基因阳性者在各个频率段听力损失比较差异无统计学意义(均P＞0.05).结论 无论KCNQ1基因阳性还是Bax基因阳性均对患者听力造成严重损失,是一种耳聋相关基因.%Objective To investigate the expression of KCNQ1 and Bax in deaf patients and their relationship to hearing.Methods Eighty deaf patients admitted to our hospital(40 positive for KCNQ1 and 40 positive for Bax) were enrolled in this study.In addition,40 patients negative for both KCNQ1 and Bax were selected as the controls.The average hearing threshold,maximum speech recognition rate,acoustic stapedius reflex,and positive rates of auditory brainstem response(ABR) at high stimulation rates and brainstem auditory evoked potentials were measured in all patients.Furthermore,hearing loss was determined in patients positive for KCNQ1 and Bax.Results Compared with patients negative for KCNQ1 and Bax,the average hearing threshold increased and the maximum speech recognition rate,acoustic stapedius reflex and positive rates of ABR at high stimulation rates and brainstem auditory evoked potentials decreased in those positive for KCNQ1 and Bax(P＜0.01).There was no significant difference in hearing loss among different frequency bands in patients positive for KCNQ1 and Bax(P＞0.05).Conclusion Deafnessrelated genes KCNQ1 and Bax can cause serious damage to hearing.
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