ArticlePloS one2017
A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 19 citations in OpenAlex.
- Genetic screening for hearing loss of 38,589 neonates with follow-up in South China.Human genomics · 2025Article
- Comparison of clinical performance of MeltPro hearing loss assay and targeted next generation sequencing assay for genetic screening of hearing loss.Scientific reports · 2025Article
- Establishment and application of a reverse dot blot assay for 13 mutations of hearing-loss genes in primary hospitals in China.Asian biomedicine : research, reviews and news · 2024Article
- CRISPR/Cas12a-Enabled Multiplex Biosensing Strategy Via an Affordable and Visual Nylon Membrane Readout.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.BMC medical genomics · 2021Article
- A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- A colorimetric strategy based on dynamic chemistry for direct detection of Trypanosomatid species.Scientific reports · 2019Article
- Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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