<abstract xmlns="http://www.w3.org/1999/xhtml">

<sec><h3>Background</h3><p>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.</p></sec>
<sec><h3>Objective</h3><p>Establishing a rapid and efficient method to simultaneously detect hotspot hearing loss gene mutations.</p></sec>
<sec><h3>Methods</h3><p>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 <italic>GJB2, GJB3, SLC26A4,</italic> and the mitochondrial gene <italic>MT-RNR1</italic>. This method involved PCR amplification systems and a hybridization platform.</p></sec>
<sec><h3>Results</h3><p>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.</p></sec>
<sec><h3>Discussion</h3><p>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.</p></sec>
</abstract>

BackgroundHearing 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.
ObjectiveEstablishing a rapid and efficient method to simultaneously detect hotspot hearing loss gene mutations.
MethodsA 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.
ResultsThe 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.
DiscussionOur 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.

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

Department of Clinical Laboratory, Changning Maternity and Infant Health Hospital

Asian Biomedicine

This work is licensed under the Creative Commons Attribution 4.0 International License.

BackgroundHearing loss is a common sensorineural dysfunction with a high incidence in China. Although genetic factors are important causes of hearing loss,...

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

Article Category: Original Article

Pubblicato online: 20 mar 2024

Pagine: 11 - 17

DOI: https://doi.org/10.2478/abm-2024-0003

Parole chiave
hearing-loss gene, reverse dot blot assay,

© 2024 Qing-Qing Jiang et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

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

Article Category: Original Article

Pubblicato online: 20 mar 2024

Pagine: 11 - 17

DOI: https://doi.org/10.2478/abm-2024-0003

Parole chiavehearing-loss gene, reverse dot blot assay,

© 2024 Qing-Qing Jiang et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Parole chiave
hearing-loss gene, reverse dot blot assay,