非综合征型耳聋的不同听力学表型与常见致聋基因的相关性  

An analysis of the correlation between different audiological phenotypes and common genes causing deafness in non-syndromic deafness

作　　者：张初琴[1] 陈波蓓[1] 伊松[2] 刘学军[1] 项海杰[1] ZHANG Chuqin;CHEN Bobei;YI Song;LIU Xuejun;XIANG Haijie(Department of Otorhinolaryngology,the Second Affiliated Hospital&Yuying Children’s Hospital of Wenzhou Medical University,Wenzhou 325027,China;School and Hospital of Stomatology,Wenzhou Medical University,Wenzhou 325027,China)

机构地区：[1]温州医科大学附属第二医院育英儿童医院耳鼻咽喉科,浙江温州325027 [2]温州医科大学附属口腔医院正畸科,浙江温州325027

出　　处：《温州医科大学学报》2020年第11期873-877,共5页Journal of Wenzhou Medical University

基　　金：温州市科技计划项目(Y20130188)。

摘　　要：目的:探讨非综合征型耳聋(NSHL)患者的发病年龄、听力学特征等与核基因GJB2、GJB6和线粒体DNA(mtDNA)A1555G、C1494T突变的相关性。方法:按不同的听力学表型对269例NSHL患者进行分组及GJB2、GJB6和mtDNA A1555G、C1494T基因检测。结果:269例NSHL患者GJB2和GJB6的检出率分别为16.73%和0.37%,mtDNA A1555G和C1494T检出率分别为23.79%和0.37%;按患者听力损失程度分为轻度、中度、重度、极重度,其构成比分别为9.67%、27.88%、23.42%和39.03%,GJB2和GJB6在4组间的总检出率分别为7.69%、8.00%、25.40%和20.95%,组间差异有统计学意义(χ^2=10.163,P=0.017);mtDNA A1555G和C1494T总突变率分别为38.46%、34.67%、30.16%和9.52%,组间差异有统计学意义(χ^2=20.932,P<0.001);在语前聋组(0~3岁)、学龄前组(3~6岁)、学龄组(6~18岁)及成年组中,GJB2和GJB6总突变率分别为26.57、13.51%、5.56%、1.89%,mtDNA A1555G和C1494T总突变率分别为14.69%、24.32%、41.67%、37.74%,组间差异有统计学意义(χ^2=21.199、18.357,均P<0.001)。结论:核基因GJB2和GJB6致病突变主要在重度和极重度耳聋中检出,mtDNA基因突变在各个程度的耳聋中均有检出,听力损失越严重,检出率越低;语前聋中核基因GJB2和GJB6致病突变多于mtDNA A1555G和C1494T,语后聋中主要为mtDNA A1555G和C1494T突变。Objective:To investigate the correlation between GJB2,GJB6 gene and mitochondrial DNA A1555G,C1494T mutation and clinical audiology and age of onset in non-syndromic deafness.Methods:GJB2,GJB6 and mitochondrial DNA A1555G,C1494T mutations were tested in 269 patients with non-syndrome deafness and the results analyzed.Results:The study showed that 16.73%and 0.37%of all patients were found to have GJB2 and GJB6 mutations,while 23.79%and 0.37%were found to have mtDNA A1555G and C1494T mutations.The rates of hearing loss in patients with a mild,moderate,severe to profound were 9.67%,27.88%,23.42%and 39.03%respectively.The mutation rates of GJB2 and GJB6 among each group were 7.69%,8.00%,25.40%and 20.95%respectively,while the mutation frequencies of mtDNA A1555G,C1494T among each group were 38.46%,34.67%%,30.16%and 9.52%respectively.Among pre-lingual group(0-3 years old),preschool group(3-6 years old);School age group(6-18 years old)and the adult group,the rates of GJB6 and GJB2 gene mutations were 26.57%,13.51%,5.56%,1.89%,respectively;the rates of mtDNA A1555G and C1494T mutations were 14.69%,24.32%,41.67%,37.74%,respectively.There was significant difference among groups with different degrees of hearing loss(χ^2=21.199,18.357,P<0.001).Conclusion:The pathogenic mutations of GJB2 and GJB6 were detected mainly in severe and extremely severe deafness,while the mtDNA gene mutations were detected in all levels of deafness,and the more serious the hearing loss,the lower the detection rate.GJB2 and GJB6 mutations tend to cause pre-lingual onset deafness,while mtDNA A1555G and C1494T mutations seem to affect patients of old age.

关 键 词：听力损失 线粒体DNA 核基因 年龄 

分 类 号：R733[医药卫生—肿瘤]