摘要
目的评估悬浮阵列技术在非综合征型遗传性耳聋中的临床应用价值。方法基于悬浮阵列技术建立4个致聋基因20个突变热点的基因检测方法，对316例疑为非综合征型遗传性耳聋患者进行检测，同时应用晶芯。”九项遗传性耳聋基因检测盒检测进行比较，Sanger测序验证结果。结果316例耳聋患者中，采用耳聋悬浮阵列技术共检出161例有基因突变，其中纯合或复合杂合突变65例，突变阳性率为50．9Voo，诊断率为21．2％。采用晶芯”九项遗传性耳聋基因检测盒共检出73例有基因突变，其中纯合或复合杂合突变34例，突变阳性率为23．1％，诊断率为11．4％。结果均与Sanger测序一致。结论构建的悬浮阵列技术平台操作简单、结果准确，对中国人常见致聋基因突变位点检出率较高，有望成为一种极具潜力的耳聋基因检测手段。
Objective To assess the value of suspension array technology （SAT） for the genetic diagnosis of non-syndromic hearing loss （NSHL）. Methods Three hundred and sixteen NSHL patients were simultaneously tested by SAT targeting 20 hotspot mutations within 4 common pathologic genes among the Chinese population as well as 9 deafness gene mutation detection kits. The results of the two approaches were validated by Sanger sequencing. Results Among the 316 patients, 161 were found to carry a mutation by SAT. Sixty five patients have carried homozygous or compound heterozygous mutations, which yielded a mutation rate of 50.9% and a diagnostic rate of 21.2%. Seventy three patients were found to be carriers by the 9 deafness gene mutation detection kits. These included 34 patients carrying homozygous or compound heterozygous mutations, which yielded a mutation rate of 23. 1% and diagnostic rate of 11.4%. Above results were consistent with those of Sanger sequencing. Conclusion SAT is a simple, rapid and accurate method featuring high detection rate for common mutations related to deafness among the Chinese population and has provided an effective means of genetic testing for hereditary deafness.
作者
何凌
冯德峰
张亮
刘畅
何天文
尹爱华
He Ling;Feng Defeng;Zhang Liang;Liu Chang;He Tianwen;Yin Aihua(Guangdong Women and Children ＇s Hospital Affiliated to Guangzhou Medical University, Guangzhou, Guangdong 511442, China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2018年第3期351-356,共6页
Chinese Journal of Medical Genetics
基金
广东省科技计划（2014A020213019）
