【摘要】 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235de1C。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。更多还原

【Abstract】 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 299₃00delAT and 235delC,respectively.The carrier rate of GJB2 was 2.1%（2/92） and mtDNA12S rRNA gene mutation rate was2.1%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 deafnessrelated gene mutations or mechanisms may be involved in the pathogenesis of deafness of Tibetans.更多还原