CAJ | 학술논문

目的:探讨遗传性耳聋基因芯片检测的临床意义.方法:对贵阳市42名非综合征性聋哑儿童及其父母进行耳聋病因问卷调查、纯音听阈测试或听性脑干反应测试,并采用耳聋基因芯片进行突变检测,对芯片检测结果为杂合突变的样本进一步行测序验证.结果:42名患儿中,7例(16.67%)存在GJB2 235 delC纯合突变,4例(9.52%)存在GJB2 235 delC杂合突变,1例(2.38%)存在GJB2 235 delC/299 delAT复合突变,2例(4.76%)存在PDS IVS7-2A＞G纯合突变,2例(4.76%)存在PDS IVS7-2A＞G杂合突变.在分子水平明确诊断者占38.10%.结论:贵阳地区耳聋患者存在较高的遗传性耳聋发生率,耳聋基因芯片诊断技术可以应用在临床中进行快速筛查、诊断,并可达到防止再出生聋儿,指导聋儿康复等积极效果.
목적:탐토유전성이롱기인심편검측적림상의의.방법:대귀양시42명비종합정성롱아인동급기부모진행이롱병인문권조사、순음은역측시혹은성뇌간반응측시,병채용이롱기인심편진행돌변검측,대심편검측결과위잡합돌변적양본진일보행측서험증.결과:42명환인중,7례(16.67%)존재GJB2 235 delC순합돌변,4례(9.52%)존재GJB2 235 delC잡합돌변,1례(2.38%)존재GJB2 235 delC/299 delAT복합돌변,2례(4.76%)존재PDS IVS7-2A＞G순합돌변,2례(4.76%)존재PDS IVS7-2A＞G잡합돌변.재분자수평명학진단자점38.10%.결론:귀양지구이롱환자존재교고적유전성이롱발생솔,이롱기인심편진단기술가이응용재림상중진행쾌속사사、진단,병가체도방지재출생롱인,지도롱인강복등적겁효과.
Objective:To analyze deafness gene mutations by genechip. Method,The peripheral blood samples were obtained and DNA templates were extracted by extraction kits. The deafness gene mutations were distinguished by genechip. Resalt:Among 42 patients with non-syndromic hearing loss, GJB2 235de1C was found in 11cases (7 cases were homozygosis, 4 eases were heterozygosis);4 eases were shown to carry the PDS IVS7-2A＞G mutation. Conclusion: The incidence of GJB2 gene and PDS IVS7-2A＞G mutations among the deaf-mute children in Guiyang city is 38. 10%. Mole-cular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary heating loss.