ArticleHuman mutation2008
Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening.
Article in Human mutation, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Nonlinear associations of birth weight and gestational age with initial newborn hearing screening referral in a large Chinese neonatal cohort.Frontiers in public health · 2026Article
- Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening.European journal of human genetics : EJHG · 2025Article
- Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.American journal of human genetics · 2019Article
- A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family.Journal of clinical laboratory analysis · 2018Article
- A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.Human genetics · 2018Article
- One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR.Scientific reports · 2018Article
- Rapid and Reliable Detection of Nonsyndromic Hearing Loss Mutations by Multicolor Melting Curve Analysis.Scientific reports · 2017Article
- Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.PloS one · 2017Article
- A screening analysis of theJournal of otology · 2016Article
- An automated microfluidic system for single-stranded DNA preparation and magnetic bead-based microarray analysis.Biomicrofluidics · 2015Article
- Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.Journal of translational medicine · 2014Article
- A novel compound heterozygous mutation in the GJB2 gene causing non-syndromic hearing loss in a family.International journal of molecular medicine · 2014Article
- The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age.BMC medical genetics · 2013Article
- The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss.International journal of audiology · 2013Review
- Mitochondrial COX2 G7598A mutation may have a modifying role in the phenotypic manifestation of aminoglycoside antibiotic-induced deafness associated with 12S rRNA A1555G mutation in a Han Chinese pedigree.Genetic testing and molecular biomarkers · 2013Article
- Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative study.Journal of translational medicine · 2011Article
- Impact of gene patents and licensing practices on access to genetic testing for hearing loss.Genetics in medicine : official journal of the American College of Medical Genetics · 2010Article
- GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.Journal of translational medicine · 2009Article
- Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region.Genetics and molecular biologyArticle
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We demonstrate a new method, using a universal array approach termed multiplex allele-specific PCR-based universal array (ASPUA), and applied it to the mutation detection of hereditary hearing loss. Mutations in many different genes may be the cause of hereditary hearing loss, a sensory defect disorder. Effective methods for genetic diagnosis are clearly needed to provide clinical management. Owing to the broad genetic basis of this condition, clinical assay of such a highly heterogeneous disorder is expensive and time consuming. In ASPUA, the allele discrimination reaction is carried out in solution by multiplex allele-specific PCR and a universal solid phase array with different tag probes is used to display the PCR result. The purpose of developing the ASPUA platform was to utilize the rapidity and simplicity of the amplification refractory mutation system (ARMS) with the detection power of microarray hybridization. This is the first report of the combination of these two technologies, which allow for the completion of allele-specific detection of 11 of the most frequent mutations causing hereditary hearing loss in under 5 hr. The ASPUA platform was validated by accurately analyzing 141 patient samples that had been previously genotyped for GJB2, GJB3, SLC26A4, and MTRNR1. In addition, we also developed a simplified assay by using streptavidin-coated magnetic beads instead of fluorescence for signal display that can be assessed through a conventional light microscope. We demonstrate that the ASPUA platform is rapid, cost-effective, and easily-used, and is especially appropriate for mutation detection in clinical genetic diagnostics.
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