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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.
Then, p 2 is the fraction of the population homozygous for the first allele, 2pq is the fraction of heterozygotes, and q 2 is the fraction homozygous for the alternative allele. If the first allele is dominant to the second then the fraction of the population that will show the dominant phenotype is p 2 + 2 pq , and the fraction with the ...
If one allele is missing, it is hemizygous, and, if both alleles are missing, it is nullizygous. The DNA sequence of a gene often varies from one individual to another. These gene variants are called alleles. While some genes have only one allele because there is low variation, others have only one allele because deviation from that allele can ...
The relative frequency with which a particular allele of a given gene (as opposed to other alleles of the same gene) occurs at a particular locus in the members of a population; more specifically, it is the proportion of all chromosomes within a population that carry a particular allele, expressed as a fraction or percentage. Allele frequency ...
Single nucleotide substitutions with an allele frequency of less than 1% are sometimes called single-nucleotide variants (SNVs). [8] " Variant" may also be used as a general term for any single nucleotide change in a DNA sequence, [ 9 ] encompassing both common SNPs and rare mutations , whether germline or somatic .
Gene conversion is the process by which one DNA sequence replaces a homologous sequence such that the sequences become identical after the conversion. [1] Gene conversion can be either allelic, meaning that one allele of the same gene replaces another allele, or ectopic, meaning that one paralogous DNA sequence converts another.
All the peas of this F1 generation have an Rr genotype. All the haploid sperm and eggs produced by meiosis received one chromosome. All the zygotes received one R allele (from the round seed parent) and one r allele (from the wrinkled seed parent). Because the R allele is dominant to the r allele, the phenotype of all the seeds was round.
The allele frequency spectrum can be written as the vector = (,,,,), where is the number of observed sites with derived allele frequency .In this example, the observed allele frequency spectrum is (,,,,), due to four instances of a single observed derived allele at a particular SNP loci, two instances of two derived alleles, and so on.