What is allele specificity?
An allele-specific oligonucleotide (ASO) is a short piece of synthetic DNA complementary to the sequence of a variable target DNA. It is designed (and used) in a way that makes it specific for only one version, or allele, of the DNA being tested.
What is allele-specific analysis?
Allele-specific expression (ASE) analysis, which quantifies the relative expression of two alleles in a diploid individual, is a powerful tool for identifying cis-regulated gene expression variations that underlie phenotypic differences among individuals.
How does allele-specific PCR work?
The Allele-specific PCR has the power to detect a single specific allele. Meaning, If you wish to amplify only a mutant allele, design a primer set accordingly and amplify it using this technique. Each set of specific primers is designed for each specific allele.
What is allele expression?
Allelic expression (AE, also known as allele-specific expression or ASE) analysis is a powerful technique that can be used to measure the expression of gene alleles relative to one another within single individuals. Allelic imbalance occurs when the two alleles of a gene are expressed at different levels.
What is allele specific mutation?
Allele-specific mutation detection sets the standards for the development of high-throughput systems, such as microarrays for the purpose of large-scale single nucleotide polymorphism (SNP) genotyping that concern genome scans and DNA diagnostics of genetic, acquired, and infectious diseases.
What is allele specific amplification?
Allele specific amplification differs from the normal PCR in that primers are carefully designed to target the region of difference in the different alleles so that a pair of primers only amplify a specific allele but not others.
What is allele-specific mutation?
What is allele-specific suppression?
Allele-specific suppression. A mutation in one gene is suppressed by a particular set of mutations in a second gene, whereas other mutations in the first gene are suppressed by a different set of mutations in the sec- ond gene (Fig. 2A).
What is SSP PCR?
Sequence-specific amplification (SSP) is simply a form of polymerase chain reaction (PCR) which involves designing one or both primers so that they will or will not allow amplification (the 3′-mismatch principle).
What is protein truncation test?
The protein truncation test (PTT) is a simple and fast method to screen for biologically relevant gene mutations. The method is based on the size analysis of products resulting from in vitro transcription and translation.
What is Adastra for ChIP-seq data?
Fig. 1: A scheme of allele-specific binding events, an overview of the ADASTRA pipeline, and its application to ChIP-Seq data. a ChIP-Seq data allow detecting ASB events by estimating the imbalance of reads carrying alternative alleles.
What do allele-specific binding events reveal about SNV binding events?
Statistical biases between the numbers of mapped reads containing alternative SNV alleles reveal the so-called allele-specific binding events 1, 14 (ASB, Fig. 1a ). Fig. 1: A scheme of allele-specific binding events, an overview of the ADASTRA pipeline, and its application to ChIP-Seq data.
What does ABCABC mean by allele specific binding?
ABC calls allele-specific binding by identifying a bias in the distribution of the SNV alleles while attempting to control for potential false positives. If you have genomic sequence data you can use the allele ratio in the DNA as the expected frequency to control for chromosome copy number.
How do single-nucleotide variants (SNVs) affect gene expression?
Single-nucleotide variants (SNVs) in gene regulatory regions may affect gene expression 3 by altering binding sites of transcription factors (TFs) in gene promoters and enhancers and, consequently, efficiency of transcription 4.