摘要
[目的]探讨延边地区感音神经性耳聋患者耳聋基因突变特征.[方法]选择延边地区20个感音神经性耳聋患者家系,其中8个家系为朝鲜族,12个家系为汉族.收集患者病史相关临床资料,抽取各家系先证者静脉血5 mL,应用DNA基因试剂盒(ClaSeek Ligation Max)进行耳聋基因检测,并采用Sanger序列测定法对其两位亲属进行耳聋基因来源验证.[结果]本组20例耳聋患者中SLC26A4基因突变9例,GJB2基因突变4例,OTOF及MYO7A基因突变各2例,LARS2、USH2A及DIAPH3基因突变各1例.[结论]SLC26A4和GJB2为本组主要致聋基因,c.919-2A>G(IVS7-2A>G)为SLC26A4热点突变,c.235delC为GJB2热点突变.
OBJECTIVE To investigate the mutation characteristics of deafness gene in patients with sensorineural hearing loss in Yanbian area.METHODS Twenty pedigrees of sensorineural hearing loss patients in Yanbian area were selected,among which 8 pedigrees were the Korean nationality and 12 pedigrees were the Han nationality.Clinical data related to the patient's medical history were collected,and 5 mL of venous blood from each proband was extracted.DNA gene Kit(ClaSeek Ligation Max)was used to detect the deafness gene,and Sanger sequencing method was used to verify the source of the deafness gene from two relatives.RESULTS Among the 20 patients,9 had mutation in SLC26A4,4 had mutation in GJB2,2 had mutation in OTOF and MYO7A,respectively,and 1 had mutation in LARS2,USH2A and DIAPH3,respectively.CONCLUSION SLC26A4 and GJB2 are the main deaf-causing genes in 20 patients,and c.919-2A>G(IVS7-2A>G)is a hotspot mutation of SLC26A4,and c.235delC is a hotspot mutation of GJB2.
作者
刘迎新
金永德
金玉莲
LIU Yingxin;JIN Yongde;JIN Yulian(Department of Otorhinolaryngology-Head and Neck Surgery,Affiliated Hospital of Yanbian University,Yanji 133000,Jilin,China;Department of Otorhinolaryngology,Shaoxing People’s Hospital,Shaoxing 312000,Zhejiang,China;Department of Otorhinolaryngology-Head and Neck Surgery,Xinhua Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200092,China)
出处
《延边大学医学学报》
CAS
2024年第2期94-96,共3页
Journal of Medical Science Yanbian University
基金
吉林省卫生技术创新项目,编号:2017J098.
关键词
感音神经性耳聋
基因检测
突变热点
sensorineural hearing loss
gene detection
mutation hotspot
