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目的探讨新生儿听力筛查确诊的听力损失与GJB2基因突变的关系。方法应用耳声发射及听觉诱发电位等方法确诊先天性双耳重度极重度非综合征型听力损失患儿20例,采用聚合酶链反应和基因测序等技术检测GJB2基因的编码区序列。50名听力正常人群作对照组。结果3例患儿的基因型为235delC/235delC,占15%;1例为235delC/299300delAT;1例为235delC/605ins46,605ins46是首次在中国人群中发现的新突变;1例为235delC等位基因携带者。即在所分析的患儿中,5例与GJB2基因突变有关,占25%。235delC等位基因频率对照组为1%,患儿组为22.5%(P<0.01)。此外,在耳聋患者和正常人群中尚存在V27I,V37I、E114G、T123N等多态性改变。结论GJB2基因突变是引起听力损失发生的重要因素;235delC是GJB2基因的主要致病突变位点,同时存在特殊类型的新突变以及较多形式的多态性。
Objective To investigate the relationship between hearing loss confirmed by neonatal hearing screening and GJB2 gene mutation. Methods Twenty patients with congenital binaural severe severe non-syndromic hearing loss were diagnosed by otoacoustic emission and auditory evoked potentials. The coding region of GJB2 gene was detected by polymerase chain reaction and gene sequencing. 50 normal people as control group. Results A total of 235 delC / 235delC were found in 3 children, accounting for 15%. One patient was 235delC / 299300delAT. One patient was 235delC / 605ins46 and 605ins46 was the first new mutation found in Chinese population. One patient had 235delC allele Carrier. That is, in the analysis of children, 5 cases and GJB2 gene mutation, accounting for 25%. The 235delC allele frequency was 1% in the control group and 22.5% in the pediatric group (P <0.01). In addition, there are V27I, V37I, E114G, T123N and other polymorphisms in deaf patients and normal population. Conclusions GJB2 gene mutation is an important factor that causes hearing loss. 235delC is the major causative mutation site of GJB2 gene, with special types of new mutations and more polymorphic forms.