title: Validation of a mobile phone-assisted microarray decoding platform for signal-enhanced mutation detection.
abstract: We have established a mobile phone-assisted microarray decoding platform for signal-enhanced mutation detection. A large amount of single-stranded DNA (ssDNA) was obtained by combining symmetric PCR and magnetic isolation, and ssDNA prepared with magnetic bead as label was further allowed to hybridize against the tag-array for decoding purpose. High sensitivity and specificity was achieved with the detection of genomic DNA. When simultaneously genotyping nine common mutations associated with hereditary hearing loss, the detection limit of 1 ng genomic DNA was achieved. Significantly, a mobile phone was also used to record and decode the genotyping results through a custom-designed imaging adaptor and a dedicated mobile phone software. A total of 51 buccal swabs from patients probably with deafness-related mutations were collected and analyzed. The genotyping results were all confirmed by fluorescence-based laser confocal scanning and direct DNA sequencing. This mobile phone-assisted decoding platform provides an effective but economic mutation detection alternative for the future quicker and sensitive detection of virtually any mutation-related diseases in developing and underdeveloped countries.
authors.affiliation: Medical Systems Biology Research Center, School of Medicine, Tsinghua University, Beijing, China.
authors.forename: Guanbin
authors.initials: G
authors.lastname: Zhang
authors.forename: Caixia
authors.initials: C
authors.lastname: Li
authors.forename: Yuan
authors.initials: Y
authors.lastname: Lu
authors.forename: Hua
authors.initials: H
authors.lastname: Hu
authors.forename: Guangxin
authors.initials: G
authors.lastname: Xiang
authors.forename: Zhiqing
authors.initials: Z
authors.lastname: Liang
authors.forename: Pu
authors.initials: P
authors.lastname: Liao
authors.forename: Pu
authors.initials: P
authors.lastname: Dai
authors.forename: Wanli
authors.initials: W
authors.lastname: Xing
authors.forename: Jing
authors.initials: J
authors.lastname: Cheng
mesh_terms: D040421:Cell Phone / Q000295:instrumentation*; D004277:DNA, Single-Stranded / Q000235:genetics* / Q000302:isolation & purification; D004867:Equipment Design; D005838:Genotype; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008280:Magnetics / Q000295:instrumentation; D009061:Mouth Mucosa / Q000378:metabolism; D009154:Mutation; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis / Q000295:instrumentation*; D012680:Sensitivity and Specificity
chemical_list: D004277:DNA, Single-Stranded