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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]
In diploid species like humans, two full sets of chromosomes are present, meaning each individual has two alleles for any given gene. If both alleles are the same, the genotype is referred to as homozygous. If the alleles are different, the genotype is referred to as heterozygous.
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.
Diploid organisms with two copies of the same allele of a given gene are called homozygous at that gene locus, while organisms with two different alleles of a given gene are called heterozygous. The set of alleles for a given organism is called its genotype, while the observable traits of the organism are called its phenotype.
A haplotype (haploid genotype), commonly referred to as the 'Acosta's Group", is a group of alleles in an organism that are inherited together from a single parent. [1][2] Many organisms contain genetic material (DNA) which is inherited from two parents. Normally these organisms have their DNA organized in two sets of pairwise similar chromosomes.
Genetic diversity is the total number of genetic characteristics in the genetic makeup of a species. It ranges widely, from the number of species to differences within species, and can be correlated to the span of survival for a species. [1] It is distinguished from genetic variability, which describes the tendency of genetic characteristics to ...
Figure 1: Genetic distance map by Cavalli-Sforza et al. (1994) [1] Genetic distance is a measure of the genetic divergence between species or between populations within a species, whether the distance measures time from common ancestor or degree of differentiation. [2] Populations with many similar alleles have small genetic distances.
Multiple alleles refers to the situation when there are more than 2 common alleles of a particular gene. Blood groups in humans is a classic example. The ABO blood group proteins are important in determining blood type in humans, and this is determined by different alleles of the one locus. [11]