内蒙古呼和浩特地区汉族和蒙古族耳聋患者基因突变特征分析

Characterization of gene mutations in deafness patients of Han and Mongolian ethnicities in Inner Mongolia

目的分析中国内蒙古呼和浩特地区蒙古族和汉族非综合征型耳聋(NSHL)患者的基因突变频率,为建立地域性的耳聋基因突变图谱的绘制提供参考。方法采用高通量测序技术,对本地区87例汉族和38例蒙古族NSHL患者进行18基因100位点的检测,统计并分析本地区耳聋基因突变谱和频率。结果本研究125例患者中有62例被检出至少一个突变等位基因,包括31例GJB2(24.8%)突变、26例SLC26A4(20.8%)突变、3例GJB3(2.4%)突变和2例MT⁃CO1(1.6%)突变。其中汉族患者的基因突变频率为56.32%(49/87),而蒙古族患者的基因突变频率为34.21%(13/38)。GJB2基因突变位点占所有等位基因的25.29%(55/250),其中汉族患者GJB2基因致病突变位点占所有等位基因的26.44%(46/174),而蒙古族患者GJB2基因致病突变位点占所有等位基因位点的11.84%(9/76)。汉族和蒙古族患者的耳聋基因位点突变频率存在显著差异。其中GJB2基因和GJB2c.235delC在两个民族之间差异明显。结论本地区NSHL患者最常发生GJB2 c.235delC和SLC26A4 c.919⁃2A>G突变。汉族患者GJB2基因的突变频率明显高于蒙古族患者,且两组患者的GJB2和SLC26A4基因的突变谱也有所不同。

Objective To analyze the gene mutation frequencies of non⁃syndromic hearing loss(NSHL)patients of Mongolian and Han ethnicity in Hohhot,Inner Mongolia,China,and to provide a reference for establishing a regional deafness gene mutation map.Methods A total of 87 Han Chinese and 38 Mongolian patients with NSHL in our region were examined using high⁃throughput sequencing.The mutation spectrum and frequency of deafness genes in our region were then statistically analyzed.Results In this study,at least one mutation allele was detected in 62 out of 125 patients.This included 31 GJB2 mutations(24.8%),26 SLC26A4 mutations(20.8%),3 GJB3 mutations(2.4%),and 2 MT⁃CO1 gene mutations(1.6%).The gene mutation frequency was 56.32%(49/87)in Han patients and 34.21%(13/38)in Mongolian patients with NSHL.Mutation sites of the GJB2 gene accounted for 25.29%(55/250)of all alleles.The pathogenic mutation sites of the GJB2 gene in Han patients accounted for 26.44%(46/174)of all alleles,while in Mongolian patients,it accounted for 11.84%(9/76)of all alleles.There was a significant difference in the frequency of mutations in deafness genes between Han and Mongolian patients.Specifically,the GJB2 gene and GJB2 c.235delC showed significant differences between the two nationalities.Conclusion The GJB2 c.235delC and SLC26A4 c.919⁃2A>G mutations were most commonly found in patients with NSHL in our region.The frequency of the GJB2 gene mutation in Han patients was significantly higher than in Mongolian patients,and the mutation spectra of the GJB2 and SLC26A4 genes also differed between the two groups.