Allele

An allele (pronounced /ˈæliːl/ (UK), /əˈliːl/ (US); from the Greek αλληλος allelos, meaning each other) is one of two or more forms of the DNA sequence of a particular gene.[1][2]

Each gene can have different alleles. Sometimes, different DNA sequences (alleles) can result in different traits, such as color. Sometimes, different DNA sequences (alleles) will have the same result in the expression of a gene.

Most organisms have two sets of chromosomes, that is, they are diploid. Diploid organisms have one copy of each gene (and one allele) on each chromosome. If both alleles are the same, they are homozygotes. If the alleles are different, they are heterozygotes.

A population or species of organisms typically includes multiple alleles at each locus among various individuals. Allelic variation at a locus is measurable as the number of alleles (polymorphism) present, or the proportion of heterozygotes (heterozygosity) in the population.

The word is a short form of allelomorph ('other form'), which was used in the early days of genetics to describe variant forms of a gene detected as different phenotypes.

For example, at the gene locus for ABO blood type proteins in humans,[3] classical genetics recognizes three alleles, IA, IB, and IO, that determines compatibility of blood transfusions. Any individual has one of six possible genotypes (AA, AO, BB, BO, AB, and OO) that produce one of four possible phenotypes: "A" (produced by AA homozygous and AO heterozygous genotypes), "B" (produced by BB homozygous and BO heterozygous genotypes), "AB" heterozygotes, and "O" homozygotes. It is now appreciated that each of the A, B, and O alleles is actually a class of multiple alleles with different DNA sequences that produce proteins with identical properties: more than 70 alleles are known at the ABO locus.[4] An individual with "Type A" blood may be a AO heterozygote, an AA homozygote, or an A'A heterozygote with two different 'A' alleles.

Dominant and recessive alleles

In many cases, genotypic interactions between the two alleles at a locus can be described as dominant or recessive, according to which of the two homozygous genotype the phenotype of the heterozygote most resembles. Where the heterozygote is indistinguishable from one of the homozygotes, the allele involved is said to be dominant to the other, which is said to be recessive to the former.[5] The degree and pattern of dominance varies among loci: for a further discussion see Dominance (genetics).

The term "wild type" allele is sometimes used to describe an allele that is thought to contribute to the typical phenotypic character as seen in "wild" populations of organisms, such as fruit flies (Drosophila melanogaster). Such a "wild type" allele was historically regarded as dominant, common, and "normal", in contrast to "mutant" alleles regarded as recessive, rare, and frequently deleterious. It was commonly thought that most individuals were homozygous for the "wild type" allele at most gene loci, and that any alternative 'mutant' allele was found in homozygous form in a small minority of "affected" individuals, often as genetic diseases, and more frequently in heterozygous form in "carriers" for the mutant allele. It is now appreciated that most or all gene loci are highly polymorphic, with multiple alleles, whose frequencies vary from population to population, and that a great deal of genetic variation is hidden in the form of alleles that do not produce obvious phenotypic differences.

Allele and genotype frequencies

The frequency of alleles in a population can be used to predict the frequencies of the corresponding genotypes (see Hardy-Weinberg principle). For a simple model, with two alleles:

p + q=1 ,

p ² + 2pq + q²=1 ,

where p is the frequency of one allele and q is the frequency of the alternative allele, which necessarily sum to unity. Then, p2 is the fraction of the population homozygous for the first allele, 2pq is the fraction of heterozygotes, and q2 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 p2 + 2pq, and the fraction with the recessive phenotype is q2.

With three alleles:

p + q + r = 1 , and

p² + 2pq + 2pr + q² + 2qr + r² = 1 ,

In the case of multiple alleles at a diploid locus, the number of possible genotypes (G) with a number of alleles (a) is given by the expression:

G= a(a+1)/2

Allelic variation in genetic disorders

A number of genetic disorders are caused when an individual inherits two recessive alleles for a single-gene trait. Recessive genetic disorders include Albinism, Cystic Fibrosis, Galactosemia, Phenylketonuria (PKU), and Tay-Sachs Disease. Other disorders are also due to recessive alleles, but because the gene locus is located on the X chromosome, so that males have only one copy (that is, they are hemizygous), they are more frequent in males than in females. Examples include red-green color blindness and Fragile X syndrome.

Other disorders, such as Huntington disease, occur when an individual inherits only one dominant allele.

See also

* Allozyme
* Evolution
* Genealogical DNA test
* Haplo-sufficiency
* Meiosis
* Mendelian error
* Mendelian inheritance
* Mitosis
* Polymorphism
* Punnett square

References and notes

1. ^ Feero WG, Guttmacher AE, Collins FS (May 2010). "Genomic medicine--an updated primer" ([dead link]). N. Engl. J. Med. 362 (21): 2001–11. doi:10.1056/NEJMra0907175. PMID 20505179. http://content.nejm.org/cgi/pmidlookup?view=short&pmid=20505179&promo=ONFLNS19.
2. ^ Malats N, Calafell F (July 2003). "Basic glossary on genetic epidemiology". Journal of Epidemiology and Community Health 57 (7): 480–2. doi:10.1136/jech.57.7.480. PMID 12821687. PMC 1732526. http://jech.bmj.com/cgi/pmidlookup?view=long&pmid=12821687.
3. ^ "ABO Glycosyltransferase; ABO". Online Mendelian Inheritance in Man. National Library of Medicine. 10 November 2009. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110300. Retrieved 24 March 2010.
4. ^ Yip SP (January 2002). "Sequence variation at the human ABO locus". Annals of Human Genetics 66 (1): 1–27. doi:10.1017/S0003480001008995. PMID 12014997.
5. ^ Hartl, Daniel L.; Elizabeth W. Jones (2005). Essential genetics: A genomics perspective (4th ed.). Jones & Bartlett Publishers. p. 53. ISBN 978-0-7637-3527-2.

* National Geographic Society, Alton Biggs, Lucy Daniel, Edward Ortleb, Peter Rillero, Dinah Zike. "Life Science". New York, Ohio, California, Illinois: Glencoe McGraw-Hill. 2002

External links

* ALFRED: The ALlele FREquency Database
* EHSTRAFD.org - Earth Human STR Allele Frequencies Database