江淮地区128例感音神经性聋患者常见耳聋基因检测结果分析

目的分析江淮地区感音神经性聋群体的常见耳聋致病基因突变特征,为临床及研究防聋治聋提供参考依据。方法纳入2015年1月—2018年6月在蚌埠医学院第一附属医院耳鼻咽喉头颈外科确诊为极重度感音神经性聋的患者共128例。听力学检查(耳声发射检查)若未通过,继续对患者进行声导抗、多频稳态、脑干诱发电位等相关检查,判断患者听力损失程度达到极重度感音神经性聋,最终明确诊断。采集感音神经性聋患者外周血,通过遗传性耳聋基因芯片试剂盒,对患者常见4个耳聋基因(GJB2、GJB3、SLC26A4、线粒体12S rRNA)的9个常见突变位点进行检测。结果对128例患者进行检测,非综合性耳聋患者中常见基因突变47例,占36.72%,其中GJB2基因突变共21例,占16.40%(21/128),阳性率为44.68%(21/47),SLC26A4基因突变共15例,占11.72%(15/128),阳性率为31.91%(15/47),线粒体12S rRNA基因突变9例,占7.03%(9/128),阳性率为19.15%(9/47)。未检出单基因GJB3突变。GJB3杂合基因突变+线粒体12SrRNA均质突变型突变1例,占0.78%(1/128),阳性率为2.13%(1/47),GJB2杂合突变+SLC26A4(216A>G)杂合突变1例,占0.78%(1/128),阳性率为2.13%(1/47)。结论江淮地区感音神经性耳聋患者基因突变以GJB2基因为主,其次为SLC26A4基因,再次为线粒体12SrRNA基因。基因芯片可用于临床进行耳聋的筛查,为临床诊断提供依据。

Analysis of genetic test results of common deafness in 128 cases of sensorineural deafness in Jianghuai region

Objective To analyze the mutation characteristics of common pathogenic genes of sensorineural deafness in Jianghuai area, and to provide reference for clinical and research on prevention and treatment of deafness. Methods A total of 128 patients with extremely severe sensorineural hearing loss were included in the department of otolaryngology, head and neck surgery of the First affiliated hospital of Bengbu medical college from January 2015 to June 2018. After relevant examinations including audiology examination (otoacoustic emission examination), otoacoustic emission examination failed, and the patient continued to conduct acoustic conduction resistance, multi-frequency homeostasis, brainstem evoked potential and other related examinations, to judge that the degree of hearing loss of the patient reached extremely severe sensorineural hearing loss, and the final diagnosis was confirmed. Peripheral blood was collected from patients diagnosed with sensorineural hearing loss, and 9 common mutation sites of 4 common deafness genes (GJB2, GJB3, SLC26A4, mitochondria 12S rRNA) were detected by genetic deafness gene chip kit. Results A total of 128 cases of patients were detected, and the comprehensive common gene mutations in 47 cases of deafness patients, accounted for 36.72%, including a total of 21 cases of GJB2 gene mutations, accounted for 16.40% (21/128), the positive rate was 44.68% (21/47), SLC26A4 gene mutations, a total of 15 cases, accounting for 11.72% (15/128), the positive rate of 31.91% (15/47), mitochondrial 12S rRNA gene mutations in 9 cases, accounting for 7.03% (9/128), and the positive rate was 19.15% (9/47). Single gene GJB3 mutation has not been detected. GJB3 heterozygous gene mutation + mitochondrial 12SrRNA homozygous mutation in 1 case (1/128, 0.78%), positive rate was 2.13%(1/47), GJB2 heterozygous mutation + SLC26A4 (216A>G) heterozygous mutation in 1 case (1/128) 0.78%, and positive rate (1/47) 2.13%. Conclusion The gene mutation of sensorineural deafness patients in Jianghuai area is mainly GJB2 gene, followed by SLC26A4 gene and mitochondrial 12SrRNA gene. The gene chip can be used to screen deafness in clinic and provide basis for clinical diagnosis.