KCNQ4基因的多态性与高频听力下降的研究  

Study of the relationship between the KCNQ4 gene polymorphism and high frequency hearing impairment

作　　者：李丽娜[1] 李庆忠 武文明[3] 王秋菊[4] 

机构地区：[1]解放军总医院第二附属医院耳鼻咽喉科,北京100091 [2]上海眼耳鼻喉医院,上海200031 [3]解放军总医院耳鼻咽喉-头颈外科,北京100853 [4]解放军总医院耳鼻咽喉研究所,北京100853

出　　处：《中国听力语言康复科学杂志》2007年第6期12-14,共3页Chinese Scientific Journal of Hearing and Speech Rehabilitation

基　　金：国家自然科学基金面上项目(项目编号:30370782&30470956);北京市重大科技项目(项目编号:H020220020610)

摘　　要：目的对中国散发高频听力下降患者中KCNQ4基因突变情况进行筛查,研究该基因第二内含子多态性与高频感音神经性聋的关系。方法在聋病门诊收集散发高频感音神经性聋患者71例,另外选取健听对照40例。采取PCR扩增、直接测序的方法检测KCNQ4基因第二内含子多态性。结果实验组的71名患者中,有16名患者出现47bp的插入或缺失,其中有5名患者出现第二内含子47bp的缺失;11名患者出现第二内含子47bp的插入。对照组的40名成员中,有2名成员出现47bp的插入。这2名成员均为男性,听力为正常,且没有耳聋的家族史。听力正常的成员中没有发现47bp的缺失。结论这个改变对听力的影响可能是通过外显子2与3的剪切拼接形式的变异而影响钾通道蛋白质的功能的。这仍需要进一步研究。ObjectiveTo screen the mutation of KCNQ4 gene in Chinese patients with high frequency hearing impairment and to study the relationship between the polymorphisrn of the second intron in KCNQ4 gene and high frequency hearing impairment. Methods Seventy-one patients with high frequency hearing impairment and 40 normal controls underwent mutation screening of the second coding region of KCNQ4 gene with bidirectional sequencing to identify sequence alterations. Results In the experimental group, the deletion of the second intron 47bp happened to 5 patients, the insertion of 47bp happened to 11 patients. In the control group, the insertion of 47bp happened to 2 males with normal hearing and without family history of deafness. Conclusion The alteration may affect the function of K＋ channel protein by aberrance of the splice format of exon 2 and exon 3.

关 键 词：高频听力下降 突变筛查 KCNQ4 遗传性耳聋 

分 类 号：R764[医药卫生—耳鼻咽喉科]