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In genetics, a locus (pl.: loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. [1] Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of protein-coding genes in a complete haploid set of 23 chromosomes is estimated at ...
A quantitative trait locus (QTL) is a region of DNA which is associated with a particular phenotypic trait, which varies in degree and which can be attributed to polygenic effects, i.e., the product of two or more genes, and their environment. [2] These QTLs are often found on different chromosomes.
An allele [1] (or allelomorph) is a variant of the sequence of nucleotides at a particular location, or locus, on a DNA molecule. [2]Alleles can differ at a single position through single nucleotide polymorphisms (SNP), [3] but they can also have insertions and deletions of up to several thousand base pairs.
An expression quantitative trait is an amount of an mRNA transcript or a protein.These are usually the product of a single gene with a specific chromosomal location. This distinguishes expression quantitative traits from most complex traits, which are not the product of the expression of a single gene.
Locus (mathematics), the set of points satisfying a particular condition, often forming a curve; Root locus analysis, a diagram visualizing the position of roots as a parameter changes; Locus (archaeology), the smallest definable unit in stratigraphy; Locus (genetics), the position of a gene or other significant sequence on a chromosome
A locus control region (LCR) is a long-range cis-regulatory element that enhances expression of linked genes at distal chromatin sites. It functions in a copy number-dependent manner and is tissue-specific, as seen in the selective expression of β-globin genes in erythroid cells . [ 1 ]
The role and degree of locus heterogeneity is an important consideration in understanding disease phenotypes and in the development of therapeutic treatment for these diseases. [1] The detection of causal genes for diseases impacted by locus heterogeneity is difficult with genetic analysis methods such as linkage analysis and genome sequencing. [9]
A particular locus on a chromosome and a given allele at that locus; A population of N individuals with ploidy n, i.e. an individual carries n copies of each chromosome in their somatic cells (e.g. two chromosomes in the cells of diploid species) The allele exists in i chromosomes in the population