中国医药指南
中國醫藥指南
중국의약지남
CHINA MEDICINE GUIDE
2015年
2期
38-39
,共2页
耳聋%基因检测%基因芯片
耳聾%基因檢測%基因芯片
이롱%기인검측%기인심편
Deafness%Gene%Gene chip
目的：分析极重度感音神经性耳聋患者的耳聋基因检测结果。方法选取150例极重度非综合征型耳聋患者，采用遗传性耳聋基因芯片试剂盒，对基因组DNA的GJB2、SLC26A4、GJB3和mtDNA12s rRNA四个耳聋相关基因的9个致聋突变位点进行检测；对所有患者进行颞CT、内耳水成像MRI扫描。结果在150例极重度非综合征型耳聋患者中检出耳聋相关基因突变者82例，占54.67%；其中GJB2基因突变41例（27.33%）；SLC26A4基因突变35例（23.33%）；mtDNA12s rRNA基因突变6例（4%）。结论遗传因素是极重度感音神经性耳聋患者的主要致病原因，GJB2和SLC26A4是主要的致病基因。
目的：分析極重度感音神經性耳聾患者的耳聾基因檢測結果。方法選取150例極重度非綜閤徵型耳聾患者，採用遺傳性耳聾基因芯片試劑盒，對基因組DNA的GJB2、SLC26A4、GJB3和mtDNA12s rRNA四箇耳聾相關基因的9箇緻聾突變位點進行檢測；對所有患者進行顳CT、內耳水成像MRI掃描。結果在150例極重度非綜閤徵型耳聾患者中檢齣耳聾相關基因突變者82例，佔54.67%；其中GJB2基因突變41例（27.33%）；SLC26A4基因突變35例（23.33%）；mtDNA12s rRNA基因突變6例（4%）。結論遺傳因素是極重度感音神經性耳聾患者的主要緻病原因，GJB2和SLC26A4是主要的緻病基因。
목적：분석겁중도감음신경성이롱환자적이롱기인검측결과。방법선취150례겁중도비종합정형이롱환자，채용유전성이롱기인심편시제합，대기인조DNA적GJB2、SLC26A4、GJB3화mtDNA12s rRNA사개이롱상관기인적9개치롱돌변위점진행검측；대소유환자진행섭CT、내이수성상MRI소묘。결과재150례겁중도비종합정형이롱환자중검출이롱상관기인돌변자82례，점54.67%；기중GJB2기인돌변41례（27.33%）；SLC26A4기인돌변35례（23.33%）；mtDNA12s rRNA기인돌변6례（4%）。결론유전인소시겁중도감음신경성이롱환자적주요치병원인，GJB2화SLC26A4시주요적치병기인。
Objective Genetic testing results analysis of very severe sensorineural deafness patients. Methods 150 cases of extremely severepatients with non syndromic deafness, the genetic deafness gene chip kit forgenomic DNA, GJB2, SLC26A4, GJB3 and mtDNA12s rRNA four deaf related gene 9 deafness mutation sites were detected; the temporal CT, inner waterimaging MRI scanning were performed in all patients. Results In 150 cases of severe non syndromic deafness associated mutations were detected,deafness patients accounted for 54.67%;the GJB2 gene mutation in 41 cases(27.33%);SLC26A4 gene mutation in 35 cases (23.33%);mtDNA12s rRNA gene mutation in 6 cases(4%). Conclusion Genetic factors are themain causes of a severe sensorineural deafness patients, GJB2 and SLC26A4 are the main pathogenic gene.
