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• W3025216807 abstract "Objective: To detect 20 common deafness gene mutations in non-syndromic hearing loss patients in China using the melting curve method, and analyze and summarize the mutation data to explore the clinical value of this method. Methods: The real-time fluorescence PCR melting curve method was used to detect 20 common mutations of four deafness genes(GJB2,GJB3,SLC26A4 and mtDNA) in 492 patients with non-syndromic hearing loss recruited between March 2014 and September 2016 from the Otolaryngology Department of Xiangya Hospital, Central South University(283 males and 209 females, the age ranged from 1 to 48 years old). The Sanger sequencing method was used to compare the sensitivity, specificity, positive predictive value, negative predictive value, and total coincidence rate of the deafness mutation detected by the real-time fluorescence PCR melting curve method. Results: A total of 492 samples were detected. 193 wild-type samples, 93 homozygous mutant samples, 145 heterozygous mutant samples, 59 composite heterozygous mutant samples and 2 samples with unknown mutations were detected using the real-time fluorescence PCR melting curve method within the range of 20 gene mutations, whichwere identical to the Sanger sequencing results.The two samples were detected as unknown mutations by the real-time fluorescent PCR melting curve method were confirmed by Sanger sequencing, including a composite heterozygous mutant sample and a homogenous mutation sample. GJB2 c.235delC and SLC26A4 c.919-2 A>G were the most common hotspot mutations in this study, followed by mtDNA m.1555 A>G. Compared with the Sanger sequencing method, the sensitivity, specificity, positive predictive value, negative predictive value, and total coincidence rate of the real-time fluorescence PCR melting curve method were 100%, the Youden's index was 1.0, and the Kappa value was 1. Conclusions: The real-time fluorescence PCR melting curve method is suitable for the detection of deafness gene mutations. It has the advantages in terms of simple, rapid, high sensitivity and strong specificity and can accurately detect the 20 gene mutations of 4 common deafness genes in Chinese population, which is expected to be used for the clinical detection of deafness genes in the future.目的： 采用实时荧光PCR熔解曲线法检测非综合征型耳聋患者人群中涵盖中国人群4个常见耳聋基因的20种突变，探讨该方法的临床实用价值。 方法： 分别采用实时荧光PCR熔解曲线法和Sanger测序法，对2014年3月至2016年9月就诊于中南大学湘雅医院的492例非综合征型感音神经性聋患者（男283例，女209例，年龄1~48岁）行4个相关耳聋基因（GJB2、GJB3、SLC26A4和mtDNA）共20种突变检测。以Sanger测序法结果为金标准，探讨实时荧光PCR熔解曲线法的灵敏度、特异性、阳性预测值、阴性预测值和总符合率等检测性能指标。 结果： 共检测492例样本，在20种基因突变的突变型范围内，实时荧光PCR熔解曲线法检出193例野生型样本，93例纯合突变型样本，145例杂合突变型样本，59例复合杂合突变型样本和2例检测为未知突变的样本，与Sanger测序法结果完全一致。2例实时荧光PCR熔解曲线法检测为未知突变的样本，经Sanger测序证实为1例复合杂合突变和1例均质性突变。GJB2 c.235delC和SLC26A4 c.919-2 A>G是本研究中最为常见的热点突变，其次是mtDNA m.1555 A>G。实时荧光PCR熔解曲线法的灵敏度、特异性、阳性预测值、阴性预测值和总符合率均为100%，约登指数为1.0，Kappa值为1。 结论： 实时荧光PCR熔解曲线法用于耳聋基因突变的检测，具有简便、快速、灵敏度高、特异性强等优点，可准确检出中国人群常见4个耳聋基因的20种基因突变，有望应用于耳聋基因的临床检测。." @default.
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• W3025216807 date "2019-04-07" @default.
• W3025216807 modified "2023-10-16" @default.
• W3025216807 title "[Application of the real-time fluorescence PCR melting curve method in gene screening of non-syndromic hearing loss]." @default.
• W3025216807 doi "https://doi.org/10.3760/cma.j.issn.1673-0860.2019.04.009" @default.
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