Mass Spectrometry Genotyping
Mostrando 1-12 de 25 artigos, teses e dissertações.
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1. Envolvimento dos oncogenes BRAF, PIK3CA e AKT1 e do microRNA supressor de tumor let-7 na transformação maligna e progressão tumoral tiroidiana. / Involvement of BRAF, PIK3CA and AKT1 oncogenes and let-7 tumor supressor gene in malignant tranformation and progression oh thyroid cancer.
Neste estudo, geramos ensaios de espectrometria de massa para detecção de 111 mutações nos genes RET, BRAF, NRAS, HRAS, KRAS, PIK3CA e AKT1 e avaliamos inúmeras linhagens celulares e tumores tiroidianos. Mostramos que as mutações dos genes BRAF e RAS refletem prognósticos distintos e que as mutações BRAF são altamente prevalentes em câncer metast
Publicado em: 2009
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2. The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome
Individuals with Down syndrome (DS) present decreased homocysteine (Hcy) concentration, reflecting a functional folate deficiency secondary to overexpression of the cystathionine ß-synthase gene. Since plasma Hcy may be influenced by genetic polymorphisms, we evaluated the influence of C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductas
Brazilian Journal of Medical and Biological Research. Publicado em: 17/12/2007
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3. Chip-based genotyping by mass spectrometry
Silicon chips with immobilized target DNAs were used for accurate genotyping by mass spectrometry. Genomic DNAs were amplified with PCR, and the amplified products were covalently attached to chip wells via N-succinimidyl (4-iodoacetyl)aminobenzoate (SIAB) chemistry. Primer annealing, extension, and termination were performed on a 1-μl scale directly in the
The National Academy of Sciences.
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4. Multiplex genotyping of PCR products with MassTag-labeled primers.
A simple mass spectrometric based assay, the PinPoint assay, has previously been described for typing single nucleotide polymorphisms. The identity of a polymorphism is determined by mass differences of single base extended genotyping primers as determined by MALDI-TOF mass spectrometry. A simple method for multiplexing the assay is described, employing mult
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5. Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry
We have established the use of a primer extension/mass spectrometry method (the PinPoint assay) for high-throughput SNP genotyping of the human Y chromosome. 118 markers were used to define 116 haplogroups and typing was organised in a hierarchical fashion. Twenty multiplex PCR/primer extension reactions were set up and each sample could be assigned to a hap
Oxford University Press.
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6. Facile method for automated genotyping of single nucleotide polymorphisms by mass spectrometry
In the future, analysis of single nucleotide polymorphisms (SNPs) should become a powerful tool for many genetic applications in areas such as association studies, pharmacogenetics and traceability in the agro-alimentary sector. A number of technologies have been developed for high-throughput genotyping of SNPs. Here we present the simplified GOOD assay for
Oxford University Press.
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7. Re-sequencing of multiple single nucleotide polymorphisms by liquid chromatography–electrospray ionization mass spectrometry
Allelic discrimination of single nucleotide polymorphisms (SNPs) and, particularly, determination of the phase of multiple variations are of utmost importance in genetics. The physicochemical separation of alleles by completely denaturing ion-pair reversed-phase high-performance liquid chromatography and their on-line sequence determination by electrospray i
Oxford University Press.
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8. Simple, Efficient, and Cost-Effective Multiplex Genotyping with Matrix Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry of Hemoglobin Beta Gene Mutations
A number of common mutations in the hemoglobin β (HBB) gene cause β-thalassemia, a monogenic disease with high prevalence in certain ethnic groups. As there are 30 HBB variants that cover more than 99.5% of HBB mutant alleles in the Thai population, an efficient and cost-effective screening method is required. Three panels of multiplex primer extensions, f
American Society for Investigative Pathology.
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9. MALDI mass spectrometry analysis of single nucleotide polymorphisms by photocleavage and charge-tagging
High-throughput procedures are an important requirement for future large-scale genetic studies such as genotyping of single nucleotide polymorphisms (SNPs). Matrix-assisted laser desorption/ ionisation mass spectrometry (MALDI-MS) has revolutionised the analysis of biomolecules and, in particular, provides a very attractive solution for the rapid typing of D
Oxford University Press.
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10. Detection and Assignment of Mutations and Minihaplotypes in Human DNA Using Peptide Mass Signature Genotyping (PMSG): Application to the Human RDS/Peripherin Gene
Peptide mass-signature genotyping (PMSG) is a scanning genotyping method that identifies mutations and polymorphisms by translating the sequence of interest in more than one reading frame and measuring the masses of the resulting peptides by mass spectrometry. PMSG was applied to the RDS/peripherin gene of 16 individuals from a family exhibiting autosoma
Cold Spring Harbor Laboratory Press.
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11. Direct genetic analysis by matrix-assisted laser desorption/ionization mass spectrometry
An approach to analyzing single-nucleotide polymorphisms (SNPs) found in the human genome has been developed that couples a recently developed invasive cleavage assay for nucleic acids with detection by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). The invasive cleavage assay is a signal amplification method tha
The National Academy of Sciences.
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12. Solid phase capturable dideoxynucleotides for multiplex genotyping using mass spectrometry
We report an approach using solid phase capturable biotinylated dideoxynucleotides (biotin-ddNTPs) in single base extension for multiplex genotyping by mass spectrometry (MS). In this method, oligonucleotide primers that have different molecular weights and that are specific to the polymorphic sites in the DNA template are extended with biotin-ddNTPs by DNA
Oxford University Press.