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- W4200565529 abstract "Hereditary hearing loss is one of the most common human neurosensory disorders, and there is a great need for early intervention methods such as genetically screening newborns. Single nucleotide polymorphisms (SNPs) are the major genetic targets for hearing-loss screening. In this study, a fully integrated SNP genotyping system was constructed to identify hereditary hearing loss-related genetic markers from human whole blood. The entire detection process, including blood cell lysis, nucleic acid extraction, the reaction mixture distribution, the chambers sealing and the two-colour multiplex competitive allele-specific polymerase chain reaction (KASP), can be automatically conducted in a self-contained cassette within 3 hours. To critically evaluate the performance of the system, its specificity, sensitivity and stability were assessed. Then, 13 clinical samples were genotyped with this fluidic cassette system to detect seven hotspot deafness-associated mutations in three genes (MT-RNR1, GJB2 and SLC26A4). The detection results of the cassette system were 100% concordant with those obtained by Sanger sequencing, proving its accuracy in the genetic screening of inherited hearing loss." @default.
- W4200565529 created "2021-12-31" @default.
- W4200565529 creator A5062114275 @default.
- W4200565529 creator A5063300708 @default.
- W4200565529 creator A5070885863 @default.
- W4200565529 creator A5084384992 @default.
- W4200565529 date "2022-01-01" @default.
- W4200565529 modified "2023-10-11" @default.
- W4200565529 title "A fully integrated SNP genotyping system for hereditary hearing-loss detection" @default.
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- W4200565529 doi "https://doi.org/10.1039/d1lc00805f" @default.
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