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


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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.

eISSN:
1875-855X
Idioma:
Inglés
Calendario de la edición:
6 veces al año
Temas de la revista:
Medicine, Assistive Professions, Nursing, Basic Medical Science, other, Clinical Medicine