What is allelic imbalance?

Allelic imbalance (AI) is a phenomenon where the two alleles of a given gene are expressed at different levels in a given cell, either because of epigenetic inactivation of one of the two alleles, or because of genetic variation in regulatory regions.

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.

What is allelic 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 an allelic variation?

Allelic variation describes the presence or number of different allele forms at a particular locus (locus or loci = place) on a chromosome (allelic variation is sometimes used more loosely to describe the overall diversity present).

How does heterozygosity loss occur?

Loss of heterozygosity (LOH) is defined as the loss of one parent’s contribution to the cell, can be caused by direct deletion, deletion due to unbalanced rearrangements, gene conversion, mitotic recombination, or loss of a chromosome (monsomy).

Why is it important to know what genes you inherit?

Genetics helps to explain: What makes you unique, or one of a kind. Why family members look alike. Why some diseases like diabetes or cancer run in families.

Are alleles DNA?

An allele is a variant form of a gene. Some genes have a variety of different forms, which are located at the same position, or genetic locus, on a chromosome. Alleles can also refer to minor DNA sequence variations between alleles that do not necessarily influence the gene’s phenotype.

How does allele-specific PCR work?

Allele-specific polymerase chain reaction (ASPCR) is an application of the polymerase chain reaction (PCR) that permits the direct detection of any point mutation in human DNA by analyzing the PCR products in an ethidium bromide-stained agarose or polyacrylamide gel.

Which of the following disease is a good example of allelic heterogeneity?

Allelic heterogeneity describes the ability of different mutations within the same gene to cause the same disease (B). Cystic fibrosis is used to demonstrate this form of heterogeneity, with as many as 1,500 CFTR mutations being attributed to causing the disorder (O’Sullivan and Freedman, 2009).

What causes allele-specific expression?

Allele-specific expression (ASE) refers to the characteristic of preferentially expressing a parental allele in the hybrid due to variations in regulatory sequences from the parental genomes (11). The expression difference caused by ASE may lead to phenotypic variation depending on the function of the genes.

What are allelic interactions?

Allele interactions: Terms used to specify interactions between alleles of. the same gene: • Dominant/recessive incompletely dominant codominant. Gene Interactions: Specific alleles of one gene mask or modify. (enhance, suppress or in some way alter) the expression of alleles of a.

What is allelic and non allelic gene?

▪ allelic genes are genes located in the identical loci of homologous chromosomes; ▪ non-allelic genes are genes located in the different loci of homologous chromosomes or. in the non-homologous chromosomes ]