77例非综合性耳聋患者基因筛查结果分析  

77 cases of non-syndromic hearing impairment′s gene screening

作　　者：付华钰[1] 李娇[1] 李萌[1] 许涓涓[1] 黄萍丽[1] 陈碧艳[1] 杜娟[1] FU Hua-yu;LI Jiao;LI Meng;XU Juan-juan;HUANG Ping-li;CHEN Bi-yan;DU Juan(Guangxi Zhuang Autonomous Region Women and Children Care Hospital,53000)

机构地区：[1]广西壮族自治区妇幼保健院,南宁530000

出　　处：《中国优生与遗传杂志》2018年第8期93-94,85,共3页Chinese Journal of Birth Health & Heredity

基　　金：广西科技厅课题;编号:桂科攻1140003B-82;广西壮族自治区卫生和计划生育委员会自筹经费科研课题;合同号:Z2016702

摘　　要：目的查找耳聋致病突变,对患者家庭进行遗传风险咨询和婚育指导。方法应用芯片法对77例中-重度感音神经性耳聋患者进行非综合征性耳聋基因检测;应用测序法对64例未检出致病突变的病例进行检测。结果芯片法检出致病性突变13例,测序法检出致病性突变2例,检出率为19.48%。结论芯片法结合测序法检测致病突变,提高致病突变检出率、精准防控、提高出生人口素质。Objecitve：To find the pathogenic mutations caused congenital deafness,providing genetic counseling and guidance to patients and their families. Methods：We used DNA Microarray to detect related genes caused non-syndromic hearing impairment in 77 patients diagnosed of intermediate or major sensorineural deafness and used Sanger sequencing to further detect 64 of 77 patients with no pathogenic mutations identified by Microarray. Results：The detectable rate of Microarray was 16.89%（13/77）and of Sanger sequencing is 3.13%（2/64）. The total rate is 19.48%. Conclusion：The methods combining Microarray and Sanger sequencing covered both hot spots and rare mutations can improve the detection rate,provide precise prevention and high quality of birth.

关 键 词：非综合征性耳聋 耳聋基因 基因芯片 测序 

分 类 号：R764.4[医药卫生—耳鼻咽喉科]