摘要
目的探讨温州地区耳聋患者SLC26A4基因突变检出率及其突变图谱。方法收集187例非综合征型耳聋患者的临床资料及外周血样本,采用Sanger测序技术对耳聋患者的SLC26A4基因外显子7、8、19及相应的内含子外显子交接处行热点突变检测,对检出的杂合突变患者进一步行SLC26A4基因全编码区测序,测序数据通过Seqman软件与NCBI标准序列进行比较并记录致病突变。结果共检出22例患者存在SLC26A4基因突变,占11.76%;其中SLC26A4基因纯合或复合杂合突变18例,占9.63%;共检出10种致病突变,其中检出率最高的3种突变为c.919-2A>G、c.2168A>G、c.416-1G>A,分别占总等位基因的的6.68%、1.60%、0.53%。结论SLC26A4基因突变是温州地区非综合征型耳聋患者的主要致聋原因之一,c.919-2A>G、c.2168A>G是该地区SLC26A4基因突变最主要的类型。
Objective To investigate the frequency and mutation spectrum of SLC26A4gene among patients with hearing loss in Wenzhou area.Methods The blood samples and clinical data of 187 patients with non-syndromic hearing loss(NSHL)were collected.SLC26A4 gene exon7/8/19 and its boundary sequences in intron were detected among all patients by Sanger sequencing.Patients with a monoallelic mutation in SLC26A4 exon7/8/19 were further tested for the SLC26A4 whole coding region sequences.The sequencing data were compared with The National Center for Biotechnology Information(NCBI)standard sequences and analyzed by Seqman software.Results SLC26A4gene mutations were detected in 22 patients with a frequency of 11.76%,among whom 18(9.63%)were homozygotes or compound heterozygotes.Ten pathogenic mutations were detected,among which c.919-2A>G,c.2168A>G and c.416-1G>A were the most prevalent accounting for 6.68%,1.60% and 0.53%,respectively.Conclusion The study shows that SLC26A4may be one of the primary deafness-causing genes in patients with NSHL from Wenzhou with c.919-2A>G and c.2168A>Gas the most common pathogenic mutations.
作者
白文静
潘勇
吴丽芳
项延包
BAI Wenjing;PAN Yong;WU Lifang(Department of Clinical Laboratory,Wenzhou Central Hospital,Wenzhou 325000,China)
出处
《浙江医学》
CAS
2019年第23期2507-2509,共3页
Zhejiang Medical Journal
基金
温州市科技计划项目（Y20180190）
