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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.
The haploid genotype (haplotype) is a genotype that considers the singular chromosomes rather than the pairs of chromosomes. It can be all the chromosomes from one of the parents or a minor part of a chromosome, for example a sequence of 9000 base pairs or a small set of alleles.
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 ...
The set of alleles that is present in each chromosome is called the MHC haplotype. In humans, each HLA allele is named with a number. In humans, each HLA allele is named with a number. For instance, for a given individual, his haplotype might be HLA-A2, HLA-B5, HLA-DR3, etc...
The words homozygous, heterozygous, and hemizygous are used to describe the genotype of a diploid organism at a single locus on the DNA. Homozygous describes a genotype consisting of two identical alleles at a given locus, heterozygous describes a genotype consisting of two different alleles at a locus, hemizygous describes a genotype consisting of only a single copy of a particular gene in an ...
A rabbit's coat color is determined by a single gene that has at least four different alleles. They display a pattern of a dominance-hierarchy that can produce four coat colors. In the genes for the dog coat colours there are four alleles on the Agouti-locus. The allele "aw" is dominant over the alleles "at" and "a" but recessive under "Ay".
Genetic linkage is the tendency of DNA sequences that are close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction.Two genetic markers that are physically near to each other are unlikely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be more linked than markers that are far apart.
Most of these variants do not have an effect on the enzyme catalysis function. A few known alleles have an indirect effect on protein function by causing misfolding and disrupt the proper assembly of the enzyme complex. Alkaptunoria is considered to be a classic example of allelic heterogeneity showing a single variant in the human phenotype. [5]