耳聋基因芯片技术在耳聋病因诊断中的应用  

Application of gene chip in determing deafness etiologies

作　　者：李琦[1] 贾蓓[2] 刘思平[2] 黄晓莉[3] 宋兰林[2] 

机构地区：[1]南方医科大学南方医院耳鼻喉科,广州510515 [2]南方医科大学南方医院妇产科产前诊断与遗传病诊断技术中心,广州510515 [3]南方医科大学南方医院妇产科,广州510515

出　　处：《中华耳科学杂志》2012年第2期252-254,共3页Chinese Journal of Otology

基　　金：南方医院新技术、新业务基金资助

摘　　要：目的使用耳聋基因芯片技术对耳科门诊耳聋患者进行病因诊断。方法收集26例明确为感音神经性听力下降的聋病患者,使用基因芯片检测试剂盒进行检测。结果 26例患者中先天性耳聋者10例,检出率为40.00%;成年感音神经性耳聋者13例,检出率为23.08%;突发性耳聋者3例,检出率为66.67%。结论遗传性耳聋基因检测试剂盒对于明确聋病患者致聋原因有一定的帮助,具有临床推广价值。Objective To report application of gene chip in etiological diagnosis in patients with hearing loss. Methods Patients （n=26） with confirmed sensorineural hearing loss were identified to receive DNA microarray tests to deter- mine the etiopathogenisis of their hearing loss. Results Positive rate was 40.00 % in the 10 cases of congenital deafness, 23.08 % in the 13 cases of adult sensorineural deafness and in 66.67 % in the 5 cases of sudden sensorineural deafness. Conclusion Testing of nine deafness gene mutation using the DNA microarray helps identify the etiology of deafness in pa- tients with hearing loss and worth broad utilization in clinic.

关 键 词：耳聋基因芯片 耳聋 病因诊断 

分 类 号：R764.43[医药卫生—耳鼻咽喉科] R349.8[医药卫生—临床医学]