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

IF 0.4 4区医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Asian Biomedicine Pub Date : 2024-03-20 eCollection Date: 2024-02-01 DOI:10.2478/abm-2024-0003

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

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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 GJB2, GJB3, SLC26A4, and the mitochondrial gene MT-RNR1. 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.

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在中国基层医院建立并应用反向点印迹法检测 13 种听力损失基因突变。

背景：听力损失是一种常见的感音神经功能障碍，在中国的发病率很高。虽然遗传因素是听力损失的重要原因，但与听力相关的基因检测在中国尚未得到广泛应用：建立一种快速有效的方法，同时检测听力损失热点基因突变：方法：采用反向点印迹法结合流式杂交技术，同时检测GJB2、GJB3、SLC26A4和线粒体基因MT-RNR1等4个听力损失相关基因的13个热点突变。该方法涉及 PCR 扩增系统和杂交平台：结果：该技术可检测出 4 个听力损失相关基因的 13 个热点突变。讨论：我们的反向点印迹检测法是一种有效的检测方法：讨论：我们的反向点印迹法是一种简单、快速、准确且经济有效的方法，可在中国人群中鉴定 4 个听力损失相关基因的热点突变。

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来源期刊

Asian Biomedicine 医学-医学：研究与实验

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Asian Biomedicine: Research, Reviews and News (ISSN 1905-7415 print; 1875-855X online) is published in one volume (of 6 bimonthly issues) a year since 2007. [...]Asian Biomedicine is an international, general medical and biomedical journal that aims to publish original peer-reviewed contributions dealing with various topics in the biomedical and health sciences from basic experimental to clinical aspects. The work and authorship must be strongly affiliated with a country in Asia, or with specific importance and relevance to the Asian region. The Journal will publish reviews, original experimental studies, observational studies, technical and clinical (case) reports, practice guidelines, historical perspectives of Asian biomedicine, clinicopathological conferences, and commentaries Asian biomedicine is intended for a broad and international audience, primarily those in the health professions including researchers, physician practitioners, basic medical scientists, dentists, educators, administrators, those in the assistive professions, such as nurses, and the many types of allied health professionals in research and health care delivery systems including those in training.