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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 example in dog coat genetics is the homozygosity with the allele "e e" on the Extension-locus making it impossible to produce any other pigment than pheomelanin. Although the allele "e" is a recessive allele on the extension-locus itself, the presence of two copies leverages the dominance of other coat colour genes.
A polygene is a member of a group of non-epistatic genes that interact additively to influence a phenotypic trait, thus contributing to multiple-gene inheritance (polygenic inheritance, multigenic inheritance, quantitative inheritance [1]), a type of non-Mendelian inheritance, as opposed to single-gene inheritance, which is the core notion of Mendelian inheritance.
For example, Mendel focused on traits whose genes have only two alleles, such as "A" and "a". However, many genes have more than two alleles. He also focused on traits determined by a single gene. But some traits, such as height, depend on many genes rather than just one. Traits dependent on multiple genes are called polygenic traits.
For example, mice with the Mini Muscle mutation were observed to have a higher per-gram aerobic capacity. [35] The mini-muscle allele shows a mendelian recessive behavior. [10] The mutation is a single nucleotide polymorphism in an intron of the myosin heavy polypeptide 4 gene. [36]
Eye color is an example of a (physical) phenotypic trait. A phenotypic trait, [1] [2] simply trait, or character state [3] [4] is a distinct variant of a phenotypic characteristic of an organism; it may be either inherited or determined environmentally, but typically occurs as a combination of the two. [5]
The cross begins with the parental generation. One parent is homozygous for one allele, and the other parent is homozygous for the other allele. The offspring make up the first filial generation. Every member of the F1 generation is heterozygous and the phenotype of the F1 generation expresses the dominant trait. [3]
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...