山东省非综合征型耳聋患者十四项遗传性耳聋基因突变筛查结果分析

doi:10.6040/j.issn.1673-3770.0.2015.528

摘要/Abstract

摘要： 目的筛查山东地区遗传性耳聋基因常见的致病突变位点,从分子流行病学角度阐明本地区的耳聋基因突变特征,为进一步的临床耳聋基因突变检测提供依据。方法选择非综合征型耳聋患者845例和听力正常且无听力损失家族史者351例,应用单管双色荧光PCR方法进行检测,对检测结果进行分析。结果耳聋患者845例中,GJB2基因235delC、299_300delAT、176_191del16、35delG、155delTCTG、512insAACG位点的阳性检出率分别为19.1%、6.7%、0.9%、0%、0%、0.5%;GJB3基因538C>T、547G>A位点的阳性检出率分别为0.1%、0%;SLC26A4基因IVS7-2A>G、2168A>G、1174A>T、1229C>T位点的阳性检出率分别为12.9%、3.8%、1.4%、0.7%;mtDNA 12S rRNA基因A1555G、C1494T位点的阳性检出率分别为3.9%、0.1%。正常听力人群,GJB2基因235delC、299_300delAT位点和SLC26A4基因IVS7-2A>G、2168A>G位点的携带率分别为1.4%、0.9%、1.1%、0.6%,其余10个位点的携带率均为0%。结论山东地区常见的耳聋突变位点为:GJB2基因235delC、299_300delAT、176_191del16、512insAACG;SLC26A4基因IVS7-2A>G、2168A>G、1174A>T、1229C>T;mtDNA 12S rRNA 基因A1555G。其中以GJB2基因235delC和299_300delAT、SLC26A4基因IVS7-2A>G和2168A>G、mtDNA 12S rRNA基因A1555G位点突变频率较高,可作为本地区耳聋基因筛查项目中的热点突变,从而有针对性地指导山东地区耳聋基因检测项目的开展。

关键词: 非综合征型耳聋, GJB2, 线粒体DNA, 突变位点, 山东地区, SLC26A4

Abstract: Objective To screen the common causative sites responsible for hereditary deafness genes in Shandong and to clarify deafness gene mutation patterns in this region by a molecular epidemiological study, thus to provide a basis for further detection and clinical diagnosis of hereditary deafness. Methods Totally 845 cases of patients with non-syndromic hearing loss and 351 cases of normal hearing people without family history of hearing loss were selected. The targeted mutations were detected by the single-tube two-fluorescent PCR method, and the obtained PCR results were analyzed. Results In 845 hearing-loss patients, the positive rates of 235delC, 299_300delAT, 176_191del16, 35delG, 155delTCTG and 512insAACG in GJB2 gene were 19.1%, 6.7%, 0.9%, 0%, 0%, 0.5%, respectively; the positive rates of 538C>T and 547G>A in GJB3 gene were 0.1% and 0%, respectively; the positive rates of IVS7-2A>G, 2168A>G, 1174A>T and 1229C>T in SLC26A4 gene were 12.9%, 3.8%, 1.4% and 0.7%, respectively; the positive rates of A1555G and C1494T in mtDNA 12S rRNA gene were 3.9% and 0.1%. In normal hearing people, the carrier rates of 235delC, 299_300delAT in GJB2 gene and IVS7-2A>G, 2168A>G in SLC26A4 gene were 1.4%, 0.9%, 1.1% and 0.6%, respectively, while the carrier rates of all the other ten sites were 0%. Conclusion In Shandong province, the common mutation sites for hereditary deafness were as the following: 235delC, 299_300delAT, 176_191del16, 512insAACG in GJB2 gene; IVS7-2A>G, 2168A>G, 1174A>T, 1229C>T in SLC26A4 gene and A1555G in mtDNA 12S rRNA gene. Five of these nine sites, GJB2 gene 235delC, 299_300delAT, SLC26A4 gene IVS7-2A>G, 2168A>G and mtDNA 12S rRNA gene A1555G, showed relatively high frequencies of mutation and could be used as the hotspots in this screening project. This study can therefore be a direction for future screening of hereditary deafness gene mutations in Shandong province.

Key words: Mutation site, Non-syndromic hearing loss, GJB2, Shandong province, SLC26A4, mtDNA

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刘双双,牛玉萍,孙越,弭兆元,史桂芝. 山东省非综合征型耳聋患者十四项遗传性耳聋基因突变筛查结果分析[J]. 山东大学耳鼻喉眼学报, 2016, 30(4): 63-68.

LIU Shuangshuang, NIU Yuping, SUN Yue, MI Zhaoyuan, SHI Guizhi. Screening analysis of fourteen hereditary deafness gene mutation in patients with Non-syndromic hearing loss in Shandong province.[J]. JOURNAL OF SHANDONG UNIVERSITY (OTOLARYNGOLOGY AND OPHTHALMOLOGY), 2016, 30(4): 63-68.

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山东省非综合征型耳聋患者十四项遗传性耳聋基因突变筛查结果分析

Screening analysis of fourteen hereditary deafness gene mutation in patients with Non-syndromic hearing loss in Shandong province.

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[2]	廖礼兵,刘绮明,宗凌,翟锦明,张建国. 42例耳鸣伴听觉过敏患者特征分析[J]. 山东大学耳鼻喉眼学报, 2018, 32(5): 31-36.
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