scholarly journals Potent and Selective Antisense Oligonucleotides Targeting Single-Nucleotide Polymorphisms in the Huntington Disease Gene / Allele-Specific Silencing of Mutant Huntingtin

2011 ◽  
Vol 19 (12) ◽  
pp. 2178-2185 ◽  
Author(s):  
Jeffrey B Carroll ◽  
Simon C Warby ◽  
Amber L Southwell ◽  
Crystal N Doty ◽  
Sarah Greenlee ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Huntington Disease ◽  
Antisense Oligonucleotides ◽  
Disease Gene ◽  
Mutant Huntingtin ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Allele Specific ◽  
Huntington Disease Gene

scholarly journals Rational design of antisense oligonucleotides targeting single nucleotide polymorphisms for potent and allele selective suppression of mutant Huntingtin in the CNS

2013 ◽  
Vol 41 (21) ◽  
pp. 9634-9650 ◽  
Author(s):  
Michael E. Østergaard ◽  
Amber L. Southwell ◽  
Holly Kordasiewicz ◽  
Andrew T. Watt ◽  
Niels H. Skotte ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Antisense Oligonucleotides ◽  
Rational Design ◽  
Mutant Huntingtin ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Selective Suppression

Allele-specific long-range PCR/sequencing method for allelic assignment of multiple single nucleotide polymorphisms

2003 ◽  
Vol 55 (1) ◽  
pp. 1-9 ◽  
Author(s):  
Michiyo Nagano ◽  
Takahiro Nakamura ◽  
Shogo Ozawa ◽  
Keiko Maekawa ◽  
Yoshiro Saito ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Long Range ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Sequencing Method ◽  
Allele Specific ◽  
Long Range Pcr

scholarly journals Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease

2020 ◽  
Vol 6 (3) ◽  
pp. e430 ◽  
Author(s):  
Daniel O. Claassen ◽  
Jody Corey-Bloom ◽  
E. Ray Dorsey ◽  
Mary Edmondson ◽  
Sandra K. Kostyk ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Huntington Disease ◽  
Prospective Observational Study ◽  
Cag Repeat ◽  
Cag Repeats ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Cag Repeat Expansion ◽  
Long Read ◽  
Selective Therapy

BackgroundThe huntingtin gene (HTT) pathogenic cytosine-adenine-guanine (CAG) repeat expansion responsible for Huntington disease (HD) is phased with single nucleotide polymorphisms (SNPs), providing targets for allele-selective treatments.ObjectiveThis prospective observational study defined the frequency at which rs362307 (SNP1) or rs362331 (SNP2) was found on the same allele with pathogenic CAG expansions.MethodsAcross 7 US sites, 202 individuals with HD provided blood samples that were processed centrally to determine the number and size of CAG repeats, presence and heterozygosity of SNPs, and whether SNPs were present on the mutant HTT allele using long-read sequencing and phasing.ResultsHeterozygosity of SNP1 and/or SNP2 was identified in 146 (72%) individuals. The 2 polymorphisms were associated only with the mHTT allele in 61% (95% high density interval: 55%, 67%) of individuals.ConclusionsThese results are consistent with previous reports and demonstrate the feasibility of genotyping, phasing, and targeting of HTT SNPs for personalized treatment of HD.

Fabrication and Application of Single Nucleotide Polymorphisms Library on Magnetic Nanoparticles Using Adaptor PCR

2008 ◽  
Vol 8 (1) ◽  
pp. 405-409 ◽  
Author(s):  
Hongna Liu ◽  
Song Li ◽  
Meiju Ji ◽  
Libo Nie ◽  
Jianrong Chen ◽  
...  
Keyword(s):  
Magnetic Nanoparticles ◽  
Single Nucleotide Polymorphisms ◽  
Reliable Method ◽  
Nucleotide Polymorphisms ◽  
Probe Signal ◽  
Single Nucleotide ◽  
Novel Approach ◽  
Mismatch Probe ◽  
Allele Specific ◽  
Agt Gene

We have developed a novel approach to fabricate single nucleotide polymorphisms (SNPs) library on magnetic nanoparticles (MNPs) based on adaptor PCR. Each SNP locus in the library was interrogated by hybridization with a pair of allele specific dual-color fluorescence (Cy3, Cy5) probes to determine SNP. Two SNPs loci (M235T and A-6G) associated with essential hypertension in the angiotensinogen (AGT) gene were detected by this method and their fluorescent signals were quantified. The fluorescent ratios (match probe: mismatch probe signal) of homozygous genotypes were over 3.0, whereas heterozygous genotypes had ratios near to 1.0. Without any complex multiplex PCR procedure, it is a simple, efficient and reliable method for the multiplex SNPs detection using limited amount of DNA samples from individuals.

scholarly journals Analysis of Clinically Relevant Single-Nucleotide Polymorphisms by Use of Microelectronic Array Technology

2002 ◽  
Vol 48 (12) ◽  
pp. 2124-2130 ◽  
Author(s):  
Rosa Santacroce ◽  
Antonia Ratti ◽  
Francesco Caroli ◽  
Barbara Foglieni ◽  
Alessandro Ferraris ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Factor Vii ◽  
Restriction Enzyme Digestion ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Ret Protooncogene ◽  
Mismatched Dna ◽  
Specific Pcr ◽  
Pcr Products ◽  
Allele Specific

Abstract Background: Microelectronic DNA chip devices represent an emerging technology for genotyping. We developed methods for detection of single-nucleotide polymorphisms (SNPs) in clinically relevant genes. Methods: Primer pairs, with one containing a 5′-biotin group, were used to PCR-amplify the region encompassing the SNP to be interrogated. After denaturation, the biotinylated strand was electronically targeted to discrete sites on streptavidin-coated gel pads surfaces by use of a Nanogen Molecular Workstation. Allele-specific dye-labeled oligonucleotide reporters were used for detection of wild-type and variant sequences. Methods were developed for SNPs in genes, including factor VII, β-globin, and the RET protooncogene. We genotyped 331 samples for five DNA variations in the factor VII gene, >600 samples from patients with β-thalassemia, and 15 samples for mutations within the RET protooncogene. All samples were previously typed by various methods, including DNA sequence analysis, allele-specific PCR, and/or restriction enzyme digestion of PCR products. Results: Analysis of amplified DNA required 4–6 h. After mismatched DNA was removed, signal-to-noise ratios were >5. More than 940 samples were typed with the microelectronic array platform, and results were totally concordant with results obtained previously by other genotyping methods. Conclusions: The described protocols detect SNPs of clinical interest with results comparable to those of other genotyping methods.

Allele-specific ligation and recombinase polymerase amplification for the detection of single nucleotide polymorphisms

2019 ◽  
Vol 298 ◽  
pp. 126877 ◽  
Author(s):  
Ana Lázaro ◽  
Eric Seiti Yamanaka ◽  
Ángel Maquieira ◽  
Luis A. Tortajada-Genaro
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Recombinase Polymerase Amplification ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Allele Specific
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