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

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.