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首页> 外文期刊>Medicine. >Efficiency of microarray and SNPscan for the detection of hearing loss gene in 71 cases with nonsyndromic hearing loss
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Efficiency of microarray and SNPscan for the detection of hearing loss gene in 71 cases with nonsyndromic hearing loss

机译：芯片和SNPscan技术检测71例非综合征性听力损失患者的听力损失基因的效率

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摘要

We aim to screen the mutations of 3 hearing loss (HL) genes ( GJB2 , SLC26A4 , and 12S rRNA ) in 71 cases with nonsyndromic hearing loss (NSHL) using microarray and SNPscan, and identify the roles of nonhotspot mutation of these genes in the screening of NSHL. Seventy-one cases with moderate or severe neurosensory deafness confirmed in our department from July 2014 to December 2015 including 25 Uyghur minorities and 46 Han Chinese were included in this study. The type of mutations in GJB2 , SLC26A4 , and 12S rRNA genes were detected using microarray and SNPscan, respectively. Statistical difference was noticed in the detection rate of the HL genes in 71 cases. Using microassay, deafness genes were identified in 10 subjects (14.08%), while 22 cases (30.98%) were confirmed with the presence of deafness genes using the SNPscan. Compared with the microarray, remarkable difference was noticed in the detection rate of SNPscan ( P < .05). Nonhotspot mutation in GJB2 , SLC26A4 , and 12S rRNA genes played a crucial role in the pathogenesis of NSHL. SNPscan contributed to elevation of detection rate of NSHL in clinical practice.
机译：我们旨在使用微阵列和SNPscan筛查71例非综合征性听力损失（NSHL）的3个听力损失（HL）基因（GJB2，SLC26A4和12S rRNA）的突变，并确定这些基因的非热点突变在NSHL筛查。 2014年7月至2015年12月在我科确诊的71例中度或重度神经感觉性耳聋包括25名维吾尔族和46名汉族。分别使用微阵列和SNPscan检测了GJB2，SLC26A4和12S rRNA基因的突变类型。 HL基因检出率71例，差异有统计学意义。使用显微测定法，在10名受试者（14.08％）中鉴定出耳聋基因，而使用SNPscan确认存在耳聋基因的22例（30.98％）。与微阵列相比，SNPscan的检出率差异显着（P <.05）。 GJB2，SLC26A4和12S rRNA基因的非热点突变在NSHL的发病机理中起着至关重要的作用。 SNPscan在临床实践中有助于提高NSHL的检出率。

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