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目的:研究浙江省人群中非综合征性感音神经性聋患者间隙连接蛋白(GJB2)基因突变的情况,为浙江省GJB2基因突变图谱的绘制及非综合征性感音神经性聋的预防奠定基础。方法:收集浙江省1 822例非综合征性感音神经性聋患者及467例正常对照的血样,对GJB2基因进行聚合酶链反应(PCR)并测序,统计受检者GJB2基因突变情况。结果:1 822例患者中,共检测到30种基因突变,其中明确病理性突变11种,亚效等位基因1种,多态性突变16种,新突变方式2种。病理性突变中,c.235delC突变的检出率(18.50%)及等位基因频率(12.16%)最高,c.299_300delAT、c.176_191del16、c.512_513insAACG、c.35delG、c.283G>A、c.427C>T、c.35insG、c.439G>A、c.571T>C、c.139G>T突变的检出率及等位基因频率依次降低。结论:c.235delC突变是浙江省非综合征性感音神经性聋患者GJB2基因最常见的突变;移码突变是GJB2基因中较为常见的致病突变类型;新发现的2种突变丰富了GJB2基因突变图谱。
Objective: To investigate the GJB2 gene mutation in patients with non-syndromic sensorineural hearing loss in Zhejiang province and to lay a foundation for the mapping of GJB2 gene mutation in Zhejiang Province and the prevention of non-syndromic sensorineural hearing loss. Methods: Blood samples were collected from 1822 non - syndromic sensorineural hearing loss patients and 467 normal controls in Zhejiang Province. PCR was performed on the GJB2 gene and sequenced. The GJB2 gene mutation was analyzed. Results: A total of 1 822 patients were detected in 30 kinds of gene mutations, including clear pathological mutations in 11 species, 1 sub-effective alleles, 16 polymorphic mutations, 2 new mutations. Pathological mutation, c.235delC mutation detection rate (18.50%) and allele frequency (12.16%) highest c.299_300delAT, c.176_191del16, c.512_513insAACG, c.35delG, c.283G> A, The detection rate and allele frequency of c.427C> T, c.35insG, c.439G> A, c.571T> C and c.139G> T mutations decreased in turn. CONCLUSION: The c.235delC mutation is the most common mutation of GJB2 gene in non-syndromic sensorineural hearing loss in Zhejiang Province. The frameshift mutation is the most common pathogenic mutation in GJB2 gene. Two new mutations have enriched the GJB2 gene Mutation map.