MITF基因突变对听力损伤患儿内耳发育的影响  

Effect of MITF gene mutation on inner ear development in children with hearing impairment

作　　者：刘亚军 王亚新 韩飞[2] Liu Yajun;Wang Yaxin;Han Fei(ENT Department,The Second People's Hospital and Gynecology&Obstetrics Hospital of Fuxin city,Fuxin Liaoning 123000,China;ENT Department,Fuxin Central Hospital,Fuxin Liaoning 123000,China)

机构地区：[1]阜新市第二人民医院/阜新市妇产医院耳鼻咽喉科,辽宁阜新123000 [2]阜新市中心医院耳鼻咽喉科,辽宁阜新123000

出　　处：《保健医学研究与实践》2022年第12期77-80,共4页Health Medicine Research and Practice

摘　　要：目的 探讨MITF基因突变对听力损伤患儿内耳发育的影响。方法 选取2019年1月—2020年6月在我院诊治的听力损伤患儿140例作为观察组研究对象,同期选择听力正常儿童140例作为对照组研究对象。采用MRI对研究对象的蜗神经直径、横截面积、横截面周长进行测量,同时提取研究对象血液中基因组DNA,检测MITF基因突变情况。结果观察组研究对象的MITF基因突变率为13.6%,高于对照组的0.7%,差异有统计学意义(P<0.05)。观察组研究对象的蜗神经直径、横截面积、横截面周长均小于对照组,且差异均有统计学意义(P<0.05)。结论 MITF基因突变可影响儿童的蜗神经直径、横截面积、横截面周长,从而导致内耳发育异常,其与听力损伤的发生与发展相关。Objective To investigate the effect of MITF gene mutation on inner ear development in children with hearing impairment.Methods A total of 140 children with hearing impairment who were diagnosed and treated in our hospital from January 2019 to June 2020 were selected as participants in the observation group,and 140 children with normal hearing were selected as controls.The diameter,cross-sectional area,and cross-sectional perimeter of the cochlear nerve were measured using MRI.Genomic DNA was extracted from the blood of the participants to detect MITF gene mutations.Results The mutation rate of the MITF gene in the observation group was 13.6%,which was significantly higher than that in the control group(0.7%)(P<0.05).The diameter,cross-sectional area,and cross-sectional perimeter of the cochlear nerve in the observation group were significantly lower than those in the control group(P<0.05).Conclusion MITF gene mutation can affect the diameter,cross-sectional area,and cross-sectional perimeter of the cochlear nerve in children,which causes abnormal development of the inner ear and is associated with the occurrence and development of hearing impairment.

关 键 词：MITF基因 基因突变 听力损伤 内耳发育 

分 类 号：R764[医药卫生—耳鼻咽喉科]