[1]吴 思,邢巍巍.辽西地区非综合征性耳聋患者及其亲属常见耳聋基因检测结果分析[J].医学信息,2020,33(11):122-125.[doi:10.3969/j.issn.1006-1959.2020.11.038]
　WU Si,XING Wei-wei.Analysis of Common Deafness Gene Detection Results in Non-syndromic Deafness Patients and Their Relatives in Western Liaoning[J].Medical Information,2020,33(11):122-125.[doi:10.3969/j.issn.1006-1959.2020.11.038]
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辽西地区非综合征性耳聋患者及其亲属常见耳聋基因检测结果分析()
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医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
33卷
期数:
2020年11期
页码:
122-125
栏目:
调查分析
出版日期:
2020-06-01

文章信息/Info

Title:
Analysis of Common Deafness Gene Detection Results in Non-syndromic Deafness Patients and Their Relatives in Western Liaoning
文章编号:
1006-1959（2020）11-0122-04
作者:
吴 思; 邢巍巍
（锦州医科大学附属第一医院耳鼻咽喉头颈外科，辽宁 锦州 121000）
Author(s):
WU Si; XING Wei-wei
(Department of Otorhinolaryngology Head and Neck Surgery,the First Affiliated Hospital of Jinzhou Medical University,Jinzhou 121000,Liaoning,China)
关键词:
非综合征性耳聋; 基因突变; 基因芯片
Keywords:
Non-syndromic deafness; Gene mutation; Gene chip
分类号:
R764.3
DOI:
10.3969/j.issn.1006-1959.2020.11.038
文献标志码:
A
摘要:
目的 分析辽西地区非综合征性耳聋患者及其直系亲属耳聋基因突变检测结果，了解本地区非综合征性耳聋的常见遗传基因及其分布特点。方法 收集2018年4月~2019年4月就诊于锦州医科大学附属第一医院门诊和辽西地区聋哑学校及当地残联注册的感音神经性耳聋患者及其直系亲属共178例（患者170例，亲属8例）,采集患者及部分耳聋患者直系亲属的外周血样本，应用遗传性耳聋基因芯片技术筛查4个常见耳聋基因的13个突变位点情况，并对检测结果进行统计学分析。结果 共178名受检者中，耳聋检出率为34.83%，其中非综合征性耳聋检出率为33.53%。GJB2突变基因26例，阳性率为14.61%；SLC26A4突变基因33例，阳性率为18.54%；线粒体DNA 12S rRNA突变基因2例，阳性率为1.12%；GJB3突变基因1例，阳性率为0.56%。8例直系亲属进行耳聋基因测序，有5人检测出病理性耳聋基因突变，包括GJB2、SLC26A4两个基因的3个位点（235delC、IVS7-2A＞G、1299C＞T），其中2例为GJB2杂合突变，3例为SLC26A4杂合突变，且4组家庭中父母听力均无明显下降。不同性别、遗传史、各地区检出阳性率比较，差异无统计学意义（P＞0.05）。不同民族检出阳性率比较，差异有统计学意义（P＜0.05）。结论 辽西地区非综合征性耳聋所占比例较高，其中最常见的突变基因为SLC26A4，IVS7-2A＞G为其最主要的突变位点，其次为GJB2基因，235delC为其最常见的突变位点。
Abstract:
Objective To analyze the detection results of deafness gene mutations in patients with nonsyndromic deafness and their immediate family members in western Liaoning, to understand the common genetic genes of non-syndromic deafness in the region distribution characteristics.Methods A total of 178 sensorineural hearing loss patients (170 patients,8 relatives) registered in the outpatient clinic of the first affiliated hospital of Jinzhou Medical University and the deaf and mute school of western Liaoning Province and the local disabled association were collected on April 2018 and April 2019.The peripheral blood samples of the direct relatives of the patients and some of the deafness patients were collected, and 13 mutation sites of 4 common deafness genes were screened by genetic deafness gene chip technology.Results Among the 178 subjects, the deafness detection rate was 34.83%, and the non-syndromic deafness detection rate was 33.53%. 26 cases of GJB2 mutant gene, the positive rate was 14.61%; 33 cases of SLC26A4 mutant gene, the positive rate was 18.54%; 2 cases of mitochondrial DNA 12S rRNA mutant gene, the positive rate was 1.12%; 1 case of GJB3 mutant gene, the positive rate was 0.56%. 8 immediate family members performed deafness gene sequencing, and five persons detected pathological deafness gene mutations, including three sites of two genes of GJB2 and SLC26A4 (235delC, IVS7-2A> G, 1299C> T), of which 2 cases GJB2 heterozygous mutations,3 cases were SLC26A4 heterozygous mutations, and there was no significant decrease in parents’ hearing in the 4 groups of families.There was no statistically significant difference in the positive rates of different genders, genetic history, and regions(P>0.05).Compared with the positive rate of different nationalities, the difference was statistically significant (P<0.05).Conclusion The proportion of non-syndromic deafness in western Liaoning is relatively high. The most common mutation gene is SLC26A4, IVS7-2A> G is the most important mutation site, followed by the GJB2 gene, and 235delC is the most common mutation site.

参考文献/References:

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更新日期/Last Update: 1900-01-01