非综合征型耳聋患儿十六项遗传性耳聋基因突变检测分析

满荣军; 张增; 路荣忠; 王孝; 孙士平; 王丹; 许晓松; 王卫国; 王惠忠

doi:10.13201/j.issn.1001-1781.2015.04.007

非综合征型耳聋患儿十六项遗传性耳聋基因突变检测分析

- 淄博市中心医院耳鼻咽喉头颈外科(山东淄博, 255000)
基金项目:
山东省医药卫生科技发展计划项目(No:2011HZ120)

详细信息

通讯作者: 王惠忠,E-mail:zbwhz1216@163.com

中图分类号: R764.43

收稿日期: 2014-08-31

Mutation analysis of 16 mutation spots related to children patients with non-syndromic sensorineural hearing loss

- Department of Otorhinolaryngology Head and Neck Surgery, Zibo Central Hospital, Zibo, 255000, China

More Information

Corresponding author: WANG Huizhong, E-mail: zbwhz1216@163.com

Received Date: 31 August 2014

摘要

摘要: 目的: 通过对山东省淄博市135例非综合征型耳聋患儿进行GJB2、GJB3、SLC26A4、WFS1和线粒体DNA 12S rRNA共5个基因16个突变位点检测,研究该地区耳聋基因突变情况。方法: 采集135例非综合征型耳聋患儿外周血,以聚合酶链反应对16个突变位点进行目的片段扩增并直接测序。结果: 在135例非综合征型耳聋患儿中,62例检测出基因突变,检出率45.9%(62/135),其中双等位基因突变(纯合突变+复合杂合突变)24例,检出率17.8%(24/135);38例仅检测到1个等位基因突变,检出率28.1%(38/135)。30例患儿检测出SLC26A4基因突变,检出率最高,为22.2%(30/135);其次是GJB2基因突变,19例患儿检测出GJB2基因突变,检出率14.1%(19/135)。共检测出突变等位基因86个,突变等位基因频率(突变等位基因数/等位基因总数)为31.9%(86/270),SLC26A4 c.766_2A>G是最常见的突变,为11.11%(30/270);其次是GJB2 c.235delC突变8.5%(23/270);SLC26A4 c.2168A>G和WFS1 c.2158A>G均有较高的突变检出率(2.6%)。结论: SLC26A4基因突变是导致本研究患儿非综合征型耳聋最常见的原因,其次是GJB2基因突变;SLC26A4 c.766_2A>G是最常见的突变形式,其次是GJB2 c.235delC突变;本研究检测出GJB3和WFS1基因突变,没有检测出线粒体DNA12SrRNA基因突变。
- 聋 /
- GJB2基因 /
- GJB3基因 /
- SLC26A4基因 /
- WFS1基因 /
- 线粒体12SrRNA
Abstract: Objective: To explore the clinical signification of screening 16 target deafness mutations in GJB2, GJB3, SLC26A4, WFS1 and mitochondrial DNA 12S rRNA in 135 children patients with non-syndromic sensorineural hearing loss (NSHL) in Zibo City, Shandong province.Method: Peripheral blood samples of 135 subjects in the study diagnosed as NSHL were collected; Polymerase chain reaction (PCR) and direct sequencing were used to analyze the 16 mutation spots.Result: Sixty-two cases of 135 patients (45.9%, 62/135) were found out to be carries of at least one pathogenic gene mutation. Among them, 24 cases (17.8%, 24/135) had two mutated alleles (homozygote and compound heterozygote), and 38 cases (28.1%, 38/135) were single mutant carriers. Among all the children patients, 30 cases (22.2%, 30/135) had SLC26A4 mutations, and 19 cases (14.1%, 19/135) had GJB2 mutations. In the study 86 Mutant alleles were detected, and the allele frequency of SLC26A4 c.766_2A>G and GJB2 c.235delC was 11.11%(30/270) and 8.5% (23/270),respectively. The allele frequency of SLC26A4 c.2168A>G and WFS1 c.2158A>G is 2.6%(7/270).Conclusion: SLC26A4 mutation is the primary cause of the patients with NSHL in this study, and GJB2 mutation is the secondary. The most common mutant form is c.766_2A>G of SLC26A4, and the second is c.235delC of GJB2. GJB3 and WFS1 mutations were detected, whereas mtDNA mutations were not found out in this study.
- deafness /
- GJB2 /
- GJB3 /
- SLC26A4 /
- WFS1 /
- mtDNA 12SrRNA

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