散发高频听力下降人群中KCNQ4基因的突变筛查

目的 了解高频听力下降型感音性神经聋患者是否存在KcNQ4基因突变，并检测其是否存在与已知的KCNQ4相同的或者是新的基因突变，了解它们对高频听力下降发病机制的影响。方法 在门诊收集散发高频听力下降型感音神经性聋患者71例，另外选取正常对照者40例。采取PCR扩增、直接测序的方法检测KCNQ4基因突变。结果 KCNQ4基因中已经报道的和高频感音神经性听力损失有关的位点在实验组中未发现类似的突变，也没有发现可以引起氨基酸改变的新突变，只发现了几个多态性改变；在对照组中只发现了47bp的插入，没有发现47bp的缺失，也没有发现其他的多态性改变。结论 KCNQ4基因的突变可能并不是引起散发高频听力下降的主要原因。

Screening the Mutation of KCNQ4 Gene in Patients with High Frequencies Hearing Impairment

Objective To identify the prevalence of KCNQ4 in the Chinese poputation with high frequency hearing loss and to study the mechanism of hearing loss associated with the KCNQ4 gene in both normal and hearing impairment populations. Methods 71 patients with high frequency hearing impairment and 40 normal hearing subjects as controls received a screening for mutation of coding exons of KCNQ4 with bidirectional sequencing to identify sequences aheratioms. Results There are no mutations found in this study that may cause the change of amino acid in KCNQ4. Conclusion The mutations of KCNQ4 are not likely to be the cause of high frequency hearing loss. More studies are needed.