Dimeric gold nanoparticle assembly for detection and discrimination of single nucleotide mutation in Duchenne muscular dystrophy

Qin, Weijie; Yim, Onn Siong; Lai, Poh San; Yung, Lin‐Yue Lanry

doi:10.1016/j.bios.2010.01.028

Cited by 21 publications

(6 citation statements)

References 28 publications

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“…Deletions and duplications spanning one or more exons are detected using routine diagnostic methods such as multiplex PCR or multiplex ligation dependent probe amplification (MLPA) (Abbs, Yau, Clark, Mathew, & Bobrow, ; Beggs, Koenig, Boyce, & Kunkel, ; den Dunnen & Beggs, ; Schouten et al, ; Schwartz & Dunø, ; White et al, ). Methods used to detect more subtle sequence variations include mRNA transcript analysis, protein truncation test, denaturing gradient gel electrophoresis, single condition amplification/internal primer sequencing, single‐strand conformational polymorphism analysis, nanoparticle assays, and so forth (Flanigan et al, ; Gardner, Bobrow, & Roberts, ; Hofstra et al, ; Low et al, ; Qin, Yim, Lai, & Yung, ; Roest et al, ; Tay, Hwee Hoon Khng, Poh Sim Low, & Poh San Lai, ; Tuffery et al, ; Tuffery et al, ; Tuffery, Moine, Demaille, & Claustres, ). Linkage markers were previously used for carrier screening in DMD but found to be useful only in families that were informative and who did not carry intragenic gene recombination events (Giliberto et al, ; Lai, Chiu, Low, Lee, & Tay, ; Schwartz, Tarleton, Popovich, Seltzer, & Hoffman, ).…”

Section: Introductionmentioning

confidence: 99%

Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy

Tomar

Moorthy

Sethi

et al. 2019

American J of Med Genetics Pt C

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Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive disorders caused by mutations in the DMD gene. Emerging therapies targeting patients with specific mutations are now becoming a reality for many of these patients. Precise molecular diagnosis is essential to facilitate the identification of possible new treatments for patients in the local context. In this study, we screened 145 dystrophinopathic patients in Singapore and assessed their molecular status for eligibility to current emerging genetic therapies. Overall, 140 (96.5%) of all patients harbored pathogenic DMD mutations comprising 95 exonic deletions (65.5%), 14 exonic duplications (9.7%), and 31 pathogenic small mutations (21.4%). Nonsense and frameshift mutations constitute 83.9% of all the small mutations. We found 71% (103/145) of all Singaporean dystrophinopathy patients to be theoretically amenable for exon skipping, either through skipping of single (53.1%) or multiple exons (17.9%).This approach is applicable to 81.1% (77/95) of patients carrying deletions and 83.9% (26/31) of those with small mutations. Eteplirsen induced skipping of exon 51 is applicable to 12.4% of local patients. Nonsense read-through therapy was found to be applicable in another 12.4% of all patients. Mutation screening is crucial for providing insights into the underlying genetic signature of the disease in the local population and contributes toward existing information on DMD mutations in Asia and globally. This will guide future targeted drug development and clinical trial planning for this disease. K E Y W O R D SBecker muscular dystrophy, Duchenne muscular dystrophy, dystrophinopathy, genetic diagnosis, mutation spectrum

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Section: Introductionmentioning

confidence: 99%

Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy

Tomar

Moorthy

Sethi

et al. 2019

American J of Med Genetics Pt C

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“…The conjugation process was based on the protocol that had been reported in our group’s previous work. , The 11 nm AuNP were first stabilized with PPBS overnight. Following this, the PPBS-stabilized AuNPs were incubated with the relevant DNA to be conjugated (PG, TpG, and/or MBs), followed by OEG passivation.…”

Section: Methodsmentioning

confidence: 99%

Detection of G-Quadruplex Formation via Light Scattering of Defined Gold Nanoassemblies Modulated by Molecular Hairpins

2016

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G-quadruplexes are of great scientific interest, as these unique DNA structures play key regulatory roles in cell replication, such as safeguarding against uncontrolled cellular divisions. The quadruplexes have also been applied for detecting DNA and protein biomarkers via methods like fluorescence resonance energy transfer (FRET) and gold nanoparticle (AuNP) aggregation. As an alternative and complementary platform to the established molecular techniques for the study of quadruplexes, we have developed a strategy coupling poly-G (PG)-mediated quadruplex formation with AuNP assembly detectable via dynamic light scattering (DLS). The presence of quadruplex-forming sequences also uniquely modifies the AuNP nanoassembly readout on DLS. In addition, molecular hairpins co-attached onto the AuNP together with PG successfully modulated the quadruplex-induced nanoassembly. Through molecular beacon-based fluorescence restoration and light scattering signal changes, the open/closed conformations of the hairpins are leveraged to tune the size of the quadruplex-mediated nanoassembly.

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“…This has stimulated the development of analytical tools for the specific detection of nucleic acid sequences for potential application in genetic profiling and disease diagnosis (43). In 1996, Tyagi and Kramer (10) developed the ‘molecular beacon’ strategy for the detection of specific DNA sequences in homogenous solution.…”

Section: Case Studiesmentioning

confidence: 99%

G-quadruplexes for luminescent sensing and logic gates

Chan

Leung

et al. 2013

Nucleic Acids Research

153

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G-quadruplexes represent a versatile sensing platform for the construction of label-free molecular detection assays owing to their diverse structures that can be selectively recognized by G-quadruplex-specific luminescent probes. In this Survey and Summary, we highlight recent examples of the application of the label-free strategy for the development of G-quadruplex-based luminescent detection platforms with a view towards the potential application of tetraplex structures in the design of DNA logic gates.

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Dimeric gold nanoparticle assembly for detection and discrimination of single nucleotide mutation in Duchenne muscular dystrophy

Cited by 21 publications

References 28 publications

Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy

Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy

Detection of G-Quadruplex Formation via Light Scattering of Defined Gold Nanoassemblies Modulated by Molecular Hairpins

G-quadruplexes for luminescent sensing and logic gates

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