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.
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.
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。
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