中文摘要：

目的分析陕西省非综合征型耳聋患者GJB2基因的突变类型及突变频率。方法采集陕西省800例散发非综合征型耳聋患者和104例听力正常者外周血，提取基因组DNA，采用聚合酶链反应扩增GJB2基因全部编码区并进行测序，序列与GJB2基因标准序列进行比对分析。结果共检出29种突变类型，包括5种多态性改变、19种病理性突变以及5种未见报道的突变类型。耳聋患者与对照组间235del C和299_300delAT的检出率差异具有统计学意义。153例患者由于携带GJB2基因纯合／复合杂合突变致聋。结论GJB2基因235delC、299_300delAT以及176_191del16为陕西省非综合征型耳聋患者最常见的三种突变类型。

英文摘要：

Objective To investigate the types and incidences of the connexin 26 gene（GJB2） mutations among patients with non-syndromic hearing loss in Shaanxi province. Methods Genomic DNAs of 800 patients with non-syndromic hearing loss and 104 normal-hearing controls were obtained from peripheral blood. The whole coding region of GJB2 gene was amplified by polymerase chain reaction （PCR） and sequenced. The GJB2 gene sequences of the patients were compared with NCBI＇s reference sequences. Results Twenty-nine GJB2 gene mutations were identified, including 5 polymorphic changes, 19 pathologic mutations and 5 novel ones. The frequencies of 235delC and 299_300delAT mutations were significantly higher in patient group than those in normal control group. One hundred and fifty-three patients were homozygotes or compound heterozygotes. Conclusion It is concluded that 235 delC, 299_300delAT and 176-191de116 are the three most common GJB2 mutations among patients with non-syndromic hearing loss in Shaanxi province.