沧州市非综合征性耳聋患者常见耳聋基因突变的分析

目的：筛查沧州市非综合征青少年耳聋患者常见耳聋基因热点突变，初步了解该地区耳聋基因热点发生频率和突变谱系。方法对沧州市特殊教育学校的30例非综合征感觉神经性耳聋患者采集外周血5 mL，通过基因芯片检测技术对GJB2、GJB3、SLC26A4、线粒体12SrRNA基因20个位点进行测序。结果30例患者中共检出耳聋基因热点突变阳性者6例，阳性率为20%。其中GJB2基因突变235delC纯合突变2例，235delC杂合突变1例，299-300delAT 杂合突变1例， SLC26A4 IVS7-2A〉G 纯合突变1例，SLC26A4IVS7-2A〉G 合并 IVS7-2A〉G 杂合突变1例。结论 GJB2基因突变是引起非综合征性耳聋的主要致病基因，SLC26A4为最常见的耳聋突变基因。未检测到线粒体12SrRNA基因突变。

Mutations in Common Deafness Genes in Patients with Non-Syndromic Sensorineural Deafness in Cangzhou

Objective To screen the hotspot mutations in common deafness genes in patients with non-syndromic sensorineural deafness in Cangzhou, and to preliminary understand the frequency and spectrum of hotspot mutations in deafness genes. Methods Peripheral blood samples （5 mL） were obtained from 30 adolescents with non -syndromic sensorineural deafness in Cangzhou Special Educational School. Gene microarray technology was used for sequencing of GJB2,GJB3,SLC26A4 and mitochondrial 12SrRNA genes（20 loci）. Results Among the 30 adolescents, positive hotspot mutations in deafness genes were detected in 6 （20%）, including 2 cases of homozygous 235delC mutation, 1 case of heterozygous 235delC mutation,1 case of heterozygous 299-300delAT mutation,1 case of homozygous SLC26A4 IVS7-2A〉G mutation,and 1 case of heterozygous SLC26A4 IVS7-2A〉G/IVS7-2A〉G mutation. Conclusion GJB2 mutations are the main cause of non-syndromic sensorineural deafness and SLC26A4 mutation is associated with the most common form of deafness. No mitochondrial 12SrRNA gene mutation was detected in patients with non-syndromic sensorineural deafness.