PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: Establishing a rapid and efficient method to simultaneously detect hotspot hearing loss gene mutations.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: Establishing a rapid and efficient method to simultaneously detect hotspot hearing loss gene mutations.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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：
■听力损失是一种常见的感觉神经性功能障碍，在中国发病率很高。虽然遗传因素是听力损失的重要原因，听力相关基因检测在我国尚未被广泛采用。
■建立快速高效的方法同时检测热点听力损失基因突变。
■开发了一种结合流式杂交技术的反向斑点印迹测定法，用于同时检测包括GJB2，GJB3，SLC26A4和线粒体基因MT-RNR1在内的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。
■该技术可检测4个听力损失相关基因的13个热点突变。并用213份血样对该方法的有效性进行了评价。
■我们的反向斑点印迹分析是一个简单的，快速,准确,和经济有效的方法来识别中国人群中4个听力损失相关基因的热点突变。
■建立快速高效的方法同时检测热点听力损失基因突变。
■开发了一种结合流式杂交技术的反向斑点印迹测定法，用于同时检测包括GJB2，GJB3，SLC26A4和线粒体基因MT-RNR1在内的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。
■该技术可检测4个听力损失相关基因的13个热点突变。并用213份血样对该方法的有效性进行了评价。
■我们的反向斑点印迹分析是一个简单的，快速,准确,和经济有效的方法来识别中国人群中4个听力损失相关基因的热点突变。
