Allele-Specific Chemical Genetics: Concept, Strategies, and Applications

2014 ◽  
Vol 10 (2) ◽  
pp. 343-363 ◽  
Author(s):  
Kabirul Islam
Keyword(s):  
Chemical Genetics ◽  
Specific Chemical ◽  
Allele Specific

scholarly journals Optimization of a “bump-and-hole” approach to allele-selective BET bromodomain inhibition

2018 ◽  
Vol 9 (9) ◽  
pp. 2452-2468 ◽  
Author(s):  
A. C. Runcie ◽  
M. Zengerle ◽  
K.-H. Chan ◽  
A. Testa ◽  
L. van Beurden ◽  
...  
Keyword(s):  
Chemical Genetics ◽  
Selective Inhibition ◽  
Specific Chemical ◽  
Allele Specific

Allele-specific chemical genetics enables selective inhibition within families of highly-conserved proteins.

Allele-Specific Chemical Rescue of Histone Demethylases Using Abiotic Cofactors

2021 ◽  
Author(s):  
Valerie Scott ◽  
Debasis Dey ◽  
Jordan Kuwik ◽  
Kathryn Hinkelman ◽  
Megan Waldman ◽  
...  
Keyword(s):  
Histone Demethylases ◽  
Specific Chemical ◽  
Chemical Rescue ◽  
Allele Specific

Localization of the Br Polymorphism on a 144 bp Exon of the GPIa Gene and Its Application in Platelet DNA Typing

1994 ◽  
Vol 71 (05) ◽  
pp. 651-654 ◽  
Author(s):  
Rainer Kalb ◽  
Sentot Santoso ◽  
Katja Unkelbach ◽  
Volker Kiefel ◽  
Christian Mueller-Eckhardt
Keyword(s):  
Genomic Organization ◽  
Fragment Length Polymorphism ◽  
Human Platelet ◽  
Dna Typing ◽  
Rflp Analysis ◽  
Serological Typing ◽  
Allele Specific ◽  
Polymerase Chain ◽  
Alloimmune Thrombocytopenia ◽  
Rflp Typing

SummaryAlloimmunization against the human platelet alloantigen system Br (HPA-5) is the second most common cause of neonatal alloimmune thrombocytopenia (NAIT) in Caucasian populations. We have recently shown that a single base polymorphism at position 1648 on platelet mRNA coding for GPIa results in an aminoacid substitution at position 505 on the mature GPIa which is associated with the two serological defined Br phenotypes.Since DNA-typing of platelet alloantigens offers possibilities for useful clinical applications, we designed genomic DNA-based restriction fragment length polymorphism (RFLP) typing for Br alloantigens. To establish this technique we analyzed the genomic organization of GPIa adjacent to the polymorphic base. Using the polymerase chain reaction (PCR) of blood cell DNA we have identified two introns (approximately 1.7 and 1.9 kb) flanking a 144 bp coding sequence of the GPIa gene encompassing the polymorphic base 1648. Based on the in- tron sequence, a PCR primer was constructed to amplify a 274 bp fragment which was used for allele-specific RFLP to determine the Br genotypes. The results of RFLP analysis using Mnll endonuclease obtained from 15 donors (2 Br37*, 2 Br^ and 11 Brb/b) correlate perfectly with serological typing by monoclonal antibody-specific immobilization of platelet antigens (MAIPA) assay.

Simple and Rapid Detection of Factor V Leiden by Allele-specific PCR Amplification

1996 ◽  
Vol 75 (05) ◽  
pp. 757-759 ◽  
Author(s):  
Rainer Blasczyk ◽  
Markus Ritter ◽  
Christian Thiede ◽  
Jenny Wehling ◽  
Günter Hintz ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Pcr Amplification ◽  
Factor V ◽  
Specific Pcr ◽  
Pcr Rflp ◽  
Allele Specific ◽  
Specific Amplification ◽  
Allele Specific Pcr

SummaryResistance to activated protein C is the most common hereditary cause for thrombosis and significantly linked to factor V Leiden. In this study, primers were designed to identify the factor V mutation by allele-specific PCR amplification. 126 patients with thromboembolic events were analysed using this technique, PCR-RFLP and direct sequencing. The concordance between these techniques was 100%. In 27 patients a heterozygous factor VGln506 mutation was detected, whereas one patient with recurrent thromboembolism was homozygous for the point mutation. Due to its time- and cost-saving features allele-specific amplification should be considered for screening of factor VGln506.

A Hemi-nested, Allele Specific, Whole Blood PCR Assay for the Detection of the Factor V Leiden Mutation

1997 ◽  
Vol 77 (06) ◽  
pp. 1154-1155 ◽  
Author(s):  
Gary D Sinclair ◽  
Sandra Low ◽  
Man-Chiu Poon
Keyword(s):  
Whole Blood ◽  
Protein C ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Restriction Enzyme Digestion ◽  
Factor V ◽  
Pcr Assay ◽  
Specific Primers ◽  
Factor V Leiden Mutation ◽  
Allele Specific

SummaryWe describe a novel hemi-nested, allele specific whole blood PCR assay for detection of the factor V Leiden mutation associated with the plasma defect, activated protein C resistance. This assay utilizes 5 μl of whole blood without prior DNA extraction. The hemi-nested design, employing an outer primer pair in combination with nested, allele specific primers obviates the need for restriction enzyme digestion. PCR reactions are analysed directly on agarose or polyacrylamide minigels. The assay confirmed the genotypes of 50 individuals previously categorized by PCR and Mnll digestion, and has been subsequently utilized in the genotyping of 445 individuals referred for thrombosis studies.

Single Cell Based Microelectrode Array Biosensors

2003 ◽  
Vol 773 ◽  
Author(s):  
Mo Yang ◽  
Shalini Prasad ◽  
Xuan Zhang ◽  
Mihrimah Ozkan ◽  
Cengiz S. Ozkan
Keyword(s):  
Electrical Activity ◽  
Single Cell ◽  
Cellular Response ◽  
Microelectrode Array ◽  
Fast Fourier Transformation ◽  
Chemical Agent ◽  
Extracellular Potential ◽  
Membrane Excitability ◽  
Specific Chemical ◽  
Chemical Agents

AbstractExtracellular potential is an important parameter which indicates the electrical activity of live cells. Membrane excitability in osteoblasts plays a key role in modulating the electrical activity in the presence of chemical agents. The complexity of cell signal makes interpretation of the cellular response to a chemical agent very difficult. By analyzing shifts in the signal power spectrum, it is possible to determine a frequency spectrum also known as Signature Pattern Vectors (SPV) specific to a chemical. It is also essential to characterize single cell sensitivity and response time for specific chemical agents for developing detect-to-warn biosensors. We used a 4x4 multiple Pt microelectrode array to spatially position single osteoblast cells, by using a gradient AC field. Fast Fourier Transformation (FFT) and Wavelet Transformation (WT) analyses were used to extract information pertaining to the frequency of firing from the extracellular potential.

Polypeptides Folding: Rules for the Calculation of the Backbone Dihedral Angles φ starting from the Amino Acid Sequence

2020 ◽  
Author(s):  
Michele Larocca
Keyword(s):  
Amino Acid ◽  
Amino Acid Sequence ◽  
Theoretical Approach ◽  
Polypeptide Chain ◽  
Hydrophobic Effect ◽  
Side Chain ◽  
Dihedral Angles ◽  
Mechanical Forces ◽  
Specific Chemical

<p>Protein folding is strictly related to the determination of the backbone dihedral angles and depends on the information contained in the amino acid sequence as well as on the hydrophobic effect. To date, the type of information embedded in the amino acid sequence has not yet been revealed. The present study deals with these problematics and aims to furnish a possible explanation of the information contained in the amino acid sequence, showing and reporting rules to calculate the backbone dihedral angles φ. The study is based on the development of mechanical forces once specific chemical interactions are established among the side chain of the residues in a polypeptide chain. It aims to furnish a theoretical approach to predict backbone dihedral angles which, in the future, may be applied to computational developments focused on the prediction of polypeptide structures.</p>

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