Li Haibo, Wang Benjing, Liu Deyuan, Wang Ting, Li Qiong, Wang Wei, Li Hong
Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, 26 Daoqian Street, Suzhou 215002, China.
Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, 26 Daoqian Street, Suzhou 215002, China.
Genomics. 2015 Aug;106(2):83-7. doi: 10.1016/j.ygeno.2015.05.004. Epub 2015 May 22.
In the present study, to assess the feasibility of the SNPscan technique for mutation screening in patients with nonsyndromic hearing loss (NSHL) and neonatus in China, the SNPscan technique was compared with the SNaPshot screening system. Chinese patients (162) with NSHL were used as the experimental group and 276 children without HL were used as the control group, respectively. SNPscan detected molecular defects in 112 patients (68.5%). In this technique, 83 patients (51.2%) with homozygous or compound heterozygous had confirmed molecular etiology in the GJB2, SLC26A4, and MT-RNR1 genes. By contrast, SNaPshot detected molecular defects in 103 patients (63.6%). In this method, 72 subjects (44.4%) with HL were confirmed to have NSHL caused by these mutations. This study demonstrates that SNPscan performs equally well or better than earlier routine genotyping method for genetic hearing loss, with possibility of detecting a larger variety of mutation.
在本研究中，为评估SNPscan技术在中国非综合征性听力损失（NSHL）患者和新生儿中进行突变筛查的可行性，将SNPscan技术与SNaPshot筛查系统进行了比较。分别将162例中国NSHL患者作为实验组，276例无听力损失的儿童作为对照组。SNPscan在112例患者（68.5%）中检测到分子缺陷。在该技术中，83例（51.2%）纯合或复合杂合患者在GJB2、SLC26A4和MT-RNR1基因中确定了分子病因。相比之下，SNaPshot在103例患者（63.6%）中检测到分子缺陷。在该方法中，72例（44.4%）听力损失患者被证实患有由这些突变引起的NSHL。本研究表明，SNPscan在遗传性听力损失方面的表现与早期常规基因分型方法相当或更好，有可能检测到更多种类的突变。
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