• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

中国基层医院听力损失基因13种突变反向斑点杂交检测方法的建立与应用

Establishment and application of a reverse dot blot assay for 13 mutations of hearing-loss genes in primary hospitals in China.

作者信息

Jiang Qing-Qing, Zhu Juan-Juan, Fan Shu-Ling, Hou Ya-Ping, Hu Xie-Ying, Shi Jie, Wu Lei, Luo Ying

机构信息

Department of Clinical Laboratory, Changning Maternity and Infant Health Hospital, East China Normal University, Shanghai 200050, China.

Chaozhou Hybribio Limited Corporation, Guangdong, China.

出版信息

Asian Biomed (Res Rev News). 2024 Mar 20;18(1):11-17. doi: 10.2478/abm-2024-0003. eCollection 2024 Feb.

DOI:10.2478/abm-2024-0003
PMID:38515630
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10953844/
Abstract

BACKGROUND

Hearing loss is a common sensorineural dysfunction with a high incidence in China. Although genetic factors are important causes of hearing loss, hearing-related gene detection has not been widely adopted in China.

OBJECTIVE

Establishing a rapid and efficient method to simultaneously detect hotspot hearing loss gene mutations.

METHODS

A reverse dot blot assay combined with a flow-through hybridization technique was developed for the simultaneous detection of 13 hotspot mutations of 4 hearing loss-related genes including and the mitochondrial gene . This method involved PCR amplification systems and a hybridization platform.

RESULTS

The technique can detect 13 hotspot mutations of 4 hearing loss-related genes. And a total of 213 blood samples were used to evaluate the availability of this method.

DISCUSSION

Our reverse dot blot assay was a simple, rapid, accurate, and cost-effective method to identify hotspot mutations of 4 hearing loss-related genes in a Chinese population.

摘要

背景

听力损失是一种常见的感音神经性功能障碍，在中国发病率很高。虽然遗传因素是听力损失的重要原因，但听力相关基因检测在中国尚未得到广泛应用。

目的

建立一种快速有效的方法，同时检测热点听力损失基因突变。

方法

开发了一种反向点杂交分析方法，结合流穿杂交技术，用于同时检测4个听力损失相关基因（包括[具体基因1]和线粒体基因[具体基因2]）的13个热点突变。该方法包括聚合酶链反应（PCR）扩增系统和杂交平台。

结果

该技术可检测4个听力损失相关基因的13个热点突变。共使用213份血样评估该方法的有效性。

讨论

我们的反向点杂交分析方法是一种简单、快速、准确且经济高效的方法，可用于鉴定中国人群中4个听力损失相关基因的热点突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/715d/10953844/a51b4c604dee/j_abm-2024-0003_fig_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/715d/10953844/22cac4a07484/j_abm-2024-0003_fig_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/715d/10953844/a51b4c604dee/j_abm-2024-0003_fig_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/715d/10953844/22cac4a07484/j_abm-2024-0003_fig_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/715d/10953844/a51b4c604dee/j_abm-2024-0003_fig_002.jpg

相似文献

1
Establishment and application of a reverse dot blot assay for 13 mutations of hearing-loss genes in primary hospitals in China.中国基层医院听力损失基因13种突变反向斑点杂交检测方法的建立与应用
Asian Biomed (Res Rev News). 2024 Mar 20;18(1):11-17. doi: 10.2478/abm-2024-0003. eCollection 2024 Feb.
2
The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.中国西北地区重度至极重度感音神经性听力损失患者的GJB2、GJB3、SLC26A4和MT-RNR1基因突变频率
Int J Pediatr Otorhinolaryngol. 2020 Sep;136:110143. doi: 10.1016/j.ijporl.2020.110143. Epub 2020 May 28.
3
Prevalence of mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes in 103 children with sensorineural hearing loss in Shaoxing, China.中国绍兴103例感音神经性听力损失儿童中GJB2、SLC26A4、GJB3和MT-RNR1基因突变的发生率
Ear Nose Throat J. 2018 Jun;97(6):E33-E38. doi: 10.1177/014556131809700603.
4
A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population.一种用于筛查中国人群中与非综合征性听力损失相关的四个基因中的二十种突变的反向斑点杂交检测法。
PLoS One. 2017 May 15;12(5):e0177196. doi: 10.1371/journal.pone.0177196. eCollection 2017.
5
A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.一种用于遗传性听力损失基因突变鉴定的快速改良多重连接依赖性探针扩增反应方法。
PLoS One. 2019 Apr 11;14(4):e0215212. doi: 10.1371/journal.pone.0215212. eCollection 2019.
6
Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province.江西省采用基于血斑的靶向新一代测序技术对新生儿进行听力与常见听力损失变异基因的同步筛查。
Front Pediatr. 2022 Oct 31;10:1020519. doi: 10.3389/fped.2022.1020519. eCollection 2022.
7
[Application of PCR reverse dot blot in non-syndromic deafness gene detection].[聚合酶链反应反向斑点杂交技术在非综合征性耳聋基因检测中的应用]
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2020 Feb;34(2):153-157. doi: 10.13201/j.issn.1001-1781.2020.02.013.
8
Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.中国温州市506例非综合征性听力损失患者常见致聋基因的突变分析
Int J Pediatr Otorhinolaryngol. 2019 Jul;122:185-190. doi: 10.1016/j.ijporl.2019.04.024. Epub 2019 Apr 21.
9
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.中国汉族非综合征性感音神经性听力损失家族性和散发性患者中MT-RNR1 m.1555A>G、GJB2和SLC26A4突变谱的比较研究
Chin Med J (Engl). 2014;127(18):3233-7.
10
[Application of the real-time fluorescence PCR melting curve method in gene screening of non-syndromic hearing loss].实时荧光定量PCR熔解曲线法在非综合征性听力损失基因筛查中的应用
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2019 Apr 7;54(4):286-291. doi: 10.3760/cma.j.issn.1673-0860.2019.04.009.

引用本文的文献

1
Early detection and management of hearing loss to improve the quality of life.早期发现和管理听力损失以改善生活质量。
Asian Biomed (Res Rev News). 2024 Mar 20;18(1):1. doi: 10.2478/abm-2024-0001. eCollection 2024 Feb.

本文引用的文献

1
Hearing Phenotypes of Patients with Hearing Loss Homozygous for the c.235delc Mutation.携带c.235delc突变纯合子的听力损失患者的听力表型
Neural Plast. 2020 Aug 1;2020:8841522. doi: 10.1155/2020/8841522. eCollection 2020.
2
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.全外显子组测序鉴定了五个巴基斯坦近亲家族致聋的突变。
BMC Med Genet. 2020 Jul 18;21(1):151. doi: 10.1186/s12881-020-01087-x.
3
The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
中国西北地区重度至极重度感音神经性听力损失患者的GJB2、GJB3、SLC26A4和MT-RNR1基因突变频率
Int J Pediatr Otorhinolaryngol. 2020 Sep;136:110143. doi: 10.1016/j.ijporl.2020.110143. Epub 2020 May 28.
4
Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss.线粒体 tRNA 突变与 887 例中国耳聋患者。
Mitochondrion. 2020 May;52:163-172. doi: 10.1016/j.mito.2020.03.005. Epub 2020 Mar 10.
5
Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.遗传性听力障碍的遗传流行病学及临床特征在台湾人群中的表现。
Genes (Basel). 2019 Oct 1;10(10):772. doi: 10.3390/genes10100772.
6
Hearing threshold levels and hearing loss among people in Zhejiang, China: a population-based cross-sectional study.中国浙江人群的听力阈值水平和听力损失：一项基于人群的横断面研究。
BMJ Open. 2019 Apr 4;9(4):e027152. doi: 10.1136/bmjopen-2018-027152.
7
Diagnosis, Intervention, and Prevention of Genetic Hearing Loss.遗传性听力损失的诊断、干预和预防。
Adv Exp Med Biol. 2019;1130:73-92. doi: 10.1007/978-981-13-6123-4_5.
8
Carrier frequencies of hearing loss variants in newborns of China: A meta-analysis.中国新生儿听力损失变异的携带率：一项荟萃分析。
J Evid Based Med. 2019 Feb;12(1):40-50. doi: 10.1111/jebm.12305. Epub 2018 Jul 2.
9
A screening analysis of the c.176 del 16 mutation responsible for hereditary deafness in a Chinese family.对一个中国家庭中导致遗传性耳聋的c.176 del 16突变的筛查分析。
J Otol. 2016 Sep;11(3):134-137. doi: 10.1016/j.joto.2016.09.002. Epub 2016 Sep 12.
10
Establishment of a Gene Detection System for Hotspot Mutations of Hearing Loss.建立一个用于听力损失热点突变的基因检测系统。
Biomed Res Int. 2018 Mar 7;2018:6828306. doi: 10.1155/2018/6828306. eCollection 2018.