CAJ | 학술논문

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。
목적：사사창주시비종합정청소년이롱환자상견이롱기인열점돌변，초보료해해지구이롱기인열점발생빈솔화돌변보계。방법대창주시특수교육학교적30례비종합정감각신경성이롱환자채집외주혈5 mL，통과기인심편검측기술대GJB2、GJB3、SLC26A4、선립체12SrRNA기인20개위점진행측서。결과30례환자중공검출이롱기인열점돌변양성자6례，양성솔위20%。기중GJB2기인돌변235delC순합돌변2례，235delC잡합돌변1례，299-300delAT 잡합돌변1례， SLC26A4 IVS7-2A>G 순합돌변1례，SLC26A4IVS7-2A>G 합병 IVS7-2A>G 잡합돌변1례。결론 GJB2기인돌변시인기비종합정성이롱적주요치병기인，SLC26A4위최상견적이롱돌변기인。미검측도선립체12SrRNA기인돌변。
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.