22个耳聋基因突变位点检测结果的观察分析  

Analysis of the results of 22 deafness gene mutation test

作　　者：孙晓梅[1] 张官萍[1] 刘天润[1] 龙镇[1] 肖志文[1] 蓝琳婵 Sun Xiaomei;Zhang Guangping;Litt Tianrun;Long Zheng;Xiao Zhiwen;Lem Linehan(Department of Otorhinolaryngology, Head and Neck Surgery, The Sixth Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510655, China)

机构地区：[1]中山大学附属第六医院耳鼻咽喉头颈外科,广州510655

出　　处：《国际医药卫生导报》2019年第8期1245-1248,共4页International Medicine and Health Guidance News

摘　　要：目的 了解耳聋基因携带特点.方法 纳入2018年3月1日至2018年3月31日前来本院咨询的69例受试者,包括发病者、耳聋家族史者、健康者.对所有受试者均行22基因159位点耳聋基因测序,并记录听力状况问卷调查表.结果 69例受试者中检测出致病基因为GJB2、MT-RNR1、SLC26A4.发病者阳性率33.3%(16/48),耳聋家族史者阳性率为53.8%(7/13),健康者阳性率0%(0/8);耳聋家族史者与健康者耳聋基因携带阳性率比较差异有统计学意义(P<0.05).结论 GJB2、MT-RNR1、SLC26A4基因突变为与基因突变相关耳聋的主要责任基因.直系或三代内旁系亲属中有耳聋患者的人群具有较高携带耳聋基因的概率,在遗传咨询时应建议其做耳聋基因检测.如筛查阴性时,直系或三代内旁系亲属中有耳聋患者的听力正常人应当进行耳聋基因全序列检测.Objective To explore the characteristics of deafness gene carrying preliminary. Methods 69 subjects were enrolled, including deafness patients, health subjects who had deaf family members, and health subjects who did not have deaf family members, from March 1 to March 31 in 2018. 159 deafness genes locus sequencing in 22 genes were performed in all subjects, and hearing status questionnaires were recorded. Results The pathogenic genes detected in 69 subjects were GJB2, MT-RNR1, and SLC26A4. The positive rate in deaf patients was 33.3%(16/48), the positive rate in health subjects who had deaf family members was 53.8%(*7/13), and the positive rate in health subjects who did not have deaf family members was 0%(0/8). There was statistically significant difference in the positive rate between the health subjects who had deaf family members and the health subjects who did not have deaf family members (P<0.05). Conclusions In the deafness associated with genetic mutations, the main causative genes in deafness are GJB2, MT-RNR1, and SLC26A4. People with deaf family members in the immediate or three generatio ns of collateral relatives have a higher probability of carrying deafness genes, and should be recommended for deafness gene testing during the counseling. If the screening test is negative, people who have deaf family members should perform the full sequence detection of the deafness gene.

关 键 词：耳聋 基因检测 家族史 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]