CAJ | 학술논문

　　目的调查藏族儿童和青少年感音神经性耳聋与耳聋易感基因突变的相关性。方法研究对象为西藏自治区聋校的117例藏族耳聋学生，年龄在7～23岁之间；以50例听力正常藏族人群为对照。提取外周静脉血基因组DNA，对DNA浓度及纯度合格的92例样本采用基因芯片检测耳聋基因突变（GJB2、SLC26A4、mtDNA 12S rRNA和GJB3），对有突变的样本进行DNA测序。结果 DNA浓度及纯度合格的92份血样，经基因芯片检测，发现4例基因突变，2例为mtDNA 12S rRNA1555A＞G均质突变，2例为GJB2杂合突变，突变位点分别为299delAT和235delC。听障组中GJB2的携带率为2.1%（2/92），mtDNA12S rRNA基因突变率为2.1%（2/92），DNA测序显示与芯片检测结果一致。50例听力正常的藏族人基因芯片检测未见异常。结论藏族儿童和青少年感音神经性耳聋患者的致聋基因突变与汉族耳聋患者明显不同，推测可能存在其他的致聋基因或者致聋机制。
　　목적조사장족인동화청소년감음신경성이롱여이롱역감기인돌변적상관성。방법연구대상위서장자치구롱교적117례장족이롱학생，년령재7～23세지간；이50례은력정상장족인군위대조。제취외주정맥혈기인조DNA，대DNA농도급순도합격적92례양본채용기인심편검측이롱기인돌변（GJB2、SLC26A4、mtDNA 12S rRNA화GJB3），대유돌변적양본진행DNA측서。결과 DNA농도급순도합격적92빈혈양，경기인심편검측，발현4례기인돌변，2례위mtDNA 12S rRNA1555A＞G균질돌변，2례위GJB2잡합돌변，돌변위점분별위299delAT화235delC。은장조중GJB2적휴대솔위2.1%（2/92），mtDNA12S rRNA기인돌변솔위2.1%（2/92），DNA측서현시여심편검측결과일치。50례은력정상적장족인기인심편검측미견이상。결론장족인동화청소년감음신경성이롱환자적치롱기인돌변여한족이롱환자명현불동，추측가능존재기타적치롱기인혹자치롱궤제。
Objective To study the molecular epidemiology of Tibetan children and adolescents with sensorineural hearing loss. Methods 117 Tibetan hearing-impaired students aged 7-23 from 7 areas of Tibet autonomous region were included in this study and 50 cases of normal-hearing people were selected as controls. The questionnaire survey, routine examination and detection of gene mutations were performed. Blood genomic DNA extraction and gene chip detection were conducted and then DNA sequencing analysis was performed for abnormal genes. Results Of 117 blood samples, 92 were detected successfully in the study. 4 cases of gene mutation were found, including 2 cases with mtDNA 12S rRNA A1555G and 2 cases with GJB2 heterozygous mutation of 299_300delAT and 235delC, respectively. The carrier rate of GJB2 was 2.1% (2/92) and mtDNA12S rRNA gene mutation rate was 2.1% in the hearing-impaired group. The results of DNA sequencing were consistent with those of gene chips.The results of gene chip detection showed no abnormality in 50 normal-hearing Tibetans. Conclusion There are significant differences between Hans and Tibetans in the deafness-related genetic mutations, which imply that other deafness-related gene mutations or mechanisms may be involved in the pathogenesis of deafness of Tibetans.