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Allele. 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. [4]
Allele frequency. Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in a population, expressed as a fraction or percentage. [1] Specifically, it is the fraction of all chromosomes in the population that carry that allele over the total population or sample size.
Allele frequency spectrum. In population genetics, the allele frequency spectrum, sometimes called the site frequency spectrum, is the distribution of the allele frequencies of a given set of loci (often SNPs) in a population or sample. [1][2][3][4] Because an allele frequency spectrum is often a summary of or compared to sequenced samples of ...
When multiple different alleles for a gene are present in a species's population it is called polymorphic. Most different alleles are functionally equivalent, however some alleles can give rise to different phenotypic traits. A gene's most common allele is called the wild type, and rare alleles are called mutants.
The two possible arrangements, cis and trans, of alleles in a double heterozygote are referred to as gametic phases, and phasing is the process of determining which of the two is present in a given individual. When two genes are located on the same chromosome, the chance of a crossover producing recombination between the genes is related to the ...
The genotype of an organism is its complete set of genetic material. [1] Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. [2] The number of alleles an individual can have in a specific gene depends on the number of copies of each chromosome found in that species, also ...
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. For instance, for a given individual, his haplotype might be HLA-A2, HLA-B5, HLA-DR3, etc... Each heterozygous individual will have two MHC haplotypes, one each from the paternal and maternal chromosomes.
A full set of sister chromatids is created during the synthesis (S) phase of interphase, when all the chromosomes in a cell are replicated. The two sister chromatids are separated from each other into two different cells during mitosis or during the second division of meiosis. Compare sister chromatids to homologous chromosomes, which are the ...