Abstract
BackgroundCongenital deafness is one of the most distressing disorders affecting humanity and exhibits a high incidence worldwide. Most cases of congenital deafness in the Chinese population are caused by defects in a limited number of genes. A convenient and reliable method for detecting common deafness-related gene mutations in the Chinese population is required.MethodsWe developed a PCR-reverse dot blot (RDB) assay for screening 20 hotspot mutations of GJB2, GJB3, SLC26A4, and MT-RNR1, which are common non-syndromic hearing loss (NSHL)–associated genes in the Chinese population. The PCR-RDB assay consists of multiplex PCR amplifications of 10 fragments in the target sequence of the four above-mentioned genes in wild-type and mutant genomic DNA samples followed by hybridization to a test strip containing allele-specific oligonucleotide probes. We applied our method to a set of 225 neonates with deafness gene mutations and 30 normal neonates.ResultsThe test was validated through direct sequencing in a blinded study with 100% concordance.ConclusionsThe results demonstrated that our reverse dot blot assay is a reliable and effective genetic screening method for identifying carriers and individuals with NSHL among the Chinese population.
Highlights
Hearing loss, which severely affects patients’ daily quality of life, is one of the most common sensory impairments, affecting approximately one to three newborns per every 1,000 live births[1, 2]
We developed a PCR-reverse dot blot (RDB) assay for screening 20 hotspot mutations of GJB2, GJB3, SLC26A4, and MT-RNR1, which are common non-syndromic hearing loss (NSHL)–associated genes in the Chinese population
The results demonstrated that our reverse dot blot assay is a reliable and effective genetic screening method for identifying carriers and individuals with NSHL among the Chinese population
Summary
Hearing loss, which severely affects patients’ daily quality of life, is one of the most common sensory impairments, affecting approximately one to three newborns per every 1,000 live births[1, 2]. Previous epidemiological studies have shown that nearly half of NSHL cases are related to the following genes with recurrent mutations in the Chinese population: GJB2 (OMIM: 121011), GJB3 (OMIM: 603324), SLC26A4 (OMIM: 605646) and the mitochondrial gene MT-RNR1 (OMIM: 561000) [6,7,8]. The GJB3 gene, which is related to hereditary NSHL, was first cloned in the Chinese population, and mutations in GJB3 are associated with progressive hearing loss [7]. Nuclear gene defects constitute the majority of cases of hereditary hearing loss, it has become clear that mutations in mtDNA can cause NSHL. Congenital deafness accounts for the overwhelming majority of the population with prelingual deafness Because it can affect language capacity, the timing of the detection of hearing impairment is very important. A convenient and reliable method for detecting common deafness-related gene mutations in the Chinese population is required
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