Allele Definition - What Is The Meaning Of Allele?

Allele Definition - What Is The Meaning Of Allele?

Edited By Irshad Anwar | Updated on Jul 02, 2025 05:12 PM IST

In genetics, an allele is among the most simple concepts that constitute the fundamentals of genetic variation and inheritance. An allele is described as one form of a gene at a given locus on a chromosome. This is one of the important topics to NEET aspirants, CBSE, and several other competitive exams as it encompasses the meanings of alleles, the definition of alleles, and several examples of alleles in biological settings. The purpose of learning principles of heredity involves knowing what an allele is in biology and its implications on traits and diseases.

This Story also Contains
  1. What Is An Allele?
  2. Definition Of Alleles
  3. What Is Allele In Biology?
  4. Example Of Allele
  5. Types Of Alleles
  6. Dominant or Recessive Phenotype-Causing Alleles
  7. Genetic Interaction
  8. Frequency of genotypes
  9. Genetic Diseases Ensuing Through Allelic Dominance
  10. Idiomorphs Vs. Alleles
  11. Tips, Tricks And Strategies To Prepare For Alleles:
  12. Weightage Of Alleles In Various Entrance Exams
  13. Types Of Questions Asked On The Topic Of Alleles In Different Exams

What Is An Allele?

An allele is a variant form of the gene that occurs at a particular locus on the chromosome. Individuals have two alleles for every gene they inherit from their parents. The combination of these alleles decides the genotype of the organism and can result in affecting the phenotype.

Definition Of Alleles

This broadening of the term allele doesn't only define the genetic variation but also allows the descriptions of the forms that may be presented in a gene and in what ways the existence of one variety will provide alternative apparent traits in organisms. For example, discussing the blood type in the ABO blood group, several alleles determine the blood type of a person thus providing a reason for how variations can be a basis for differences in phenotype.

Definition of Allele in Formal Sense: An allele refers to one of the alternative forms of a gene that may cause different phenotypic effects. The presence of varied alleles at a locus is an important reason for genetic diversity in populations.

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What Is Allele In Biology?

In biology, when we ask what allele is, we describe their role in genetics as building blocks of heredity. Different alleles could have dominant as well as recessive effects on the trait manifested in offspring. For example, it was due to the two different types of alleles for purple-flowering plants and white-flowering plants in the pea plant study of Gregor Mendel.

Example Of Allele

  • One of the best examples of an allele is the ABO blood group system, which occurs in six common varieties.

  • In the case of the ABO blood group system, it has six common alleles that combine to determine an individual's blood type.

  • There are also brown eyes, so this illustrates how many variants affect a single trait.

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Types Of Alleles

Numerous alleles at every locus are often present in a species or population of organisms, among different individuals. The allele frequency (polymorphism) present or the population's fraction of heterozygotes are two ways to measure allelic variability at a locus. Alleles can be classified based on effects on phenotypes:

  • Dominant Alleles: They are expressed in the phenotype even if only one copy is present-for example, brown eyes.

  • Recessive Alleles: Two copies must be present to be expressed. Example blue eyes.

Dominant or Recessive Phenotype-Causing Alleles

The 2 homozygous phenotypes that the heterozygote most closely resembles will determine whether the genotypic interaction between both the pair of alleles at a locus is dominant or recessive. The allele displayed is the one that results in the "dominant" phenotype, and the other allele is referred to as "recessive" when the heterozygote cannot be distinguished from any of the homozygotes. Different loci exhibit different degrees and patterns of dominance. Gregor Mendel was the first to formally describe this kind of interaction. Co-dominance & polygenic inheritance are used to represent the phenotypes because many features defy this straightforward categorization.

An allele that is assumed to contribute to the usual phenotypic feature as found in "wild" species of organisms, like fruit flies, is frequently referred to as a "wild type" allele (Drosophila melanogaster). In contrast to "mutation" alleles that result in recessive, uncommon, and frequently harmful phenotypes, such "wild type" alleles were historically thought to lead to a dominant (overpowering - usually produced), common, and normal phenotype.

Genetic Interaction

The interaction of different alleles of a locus can result in other phenotypic effects. Co-dominance is a condition wherein both contribute equally toward the phenotype; the blending of traits is displayed in incomplete dominance.

Frequency of genotypes

Predicting the frequencies of the appropriate genotypes from the frequencies of alleles in such a diploid population (see Hardy–Weinberg principle). two alleles make up a straightforward model;

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1706353473175

where q seems to be the frequency of an alternative allele and p seems to be the frequency with one allele, which must add up to one. Following that, 2pq is the percentage of heterozygotes, q2 is the percentage of people who are homozygous for such alternative allele, and p2 is the percentage of the population that is homozygous for the first allele. If the first allele was dominant towards the second, then p2 + 2pq represents the population's proportion showing the dominant phenotype, while q2 represents the population proportion showing the recessive phenotype.

Three alleles:

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The number of potential genotypes (G) with such several alleles (a) at a diploid locus is indicated by the expression:

1706353473512

Genetic Diseases Ensuing Through Allelic Dominance

When a pair of grey alleles for just a single gene trait is inherited by one individual, a variety of genetic diseases might result. Galactosemia, Phenylketonuria (PKU), Tay-Sachs disease, cystic fibrosis and albinism are examples of recessive genetic diseases. Other ailments are also caused by recessive alleles, but since the X chromosome is the location of the gene locus and males only have one copy (i.e., these are hemizygous), these are more common among males than in females. Red-green colour blindness & fragile X syndrome are two examples.

When a person gets just one dominant allele, other illnesses like Huntington's disease can develop. Some genetic diseases are known to result from some specific allelic types:

  • Recessive Disorders: This category of disorders includes cystic fibrosis and Tay-Sachs disease, where an individual possesses two recessive alleles.

  • Dominant Diseases: Diseases like Huntington's are caused by the presence of just one dominant allele.

These relationships make the concept of alleles so crucial in genetics studies.

Idiomorphs Vs. Alleles

In more advanced genetic work, especially in mycology, the conventional usage has typically superseded ordinary words for sequences of the same locus that lack sequence homology with the term "idiomorph". Usage of the term idiomorph marks an important sophistication beyond any simple notion of alleles.

Tips, Tricks And Strategies To Prepare For Alleles:

Some tricks and tips to revise the topic of alleles:

What is an allele?

Allele is the other form of a gene at a given locus on the chromosome.

Mnemonic: Allele = Alternate form of a gene.

Types of alleles

Dominant alleles. It will be expressed even when a single copy will be there. And,

Recessive alleles. Two copies are required for its expression.

Mnemonic: Dominant = Dominator, Recessive = Hider.

Genetic Interaction

Co-dominance- When both alleles have an equal effect on the phenotype

Incomplete Dominance- A mix of the two traits

Mnemonic: Co-dominance = Both, Incomplete = Mix

Allele Frequency

Allele frequency allows you to estimate genetic diversity within populations.

The Hardy-Weinberg principle predicts genotype frequencies from allele frequencies.

Mnemonic: Frequency = Diversity, Hardy-Weinberg = Math

Genetic Diseases

Recessive disorders are caused by two recessive alleles; dominant disorders are caused by one dominant allele.

Mnemonic: Recessive = Double, Dominant = Single.

Weightage Of Alleles In Various Entrance Exams

The topic of alleles has a lot of weightage in various entrance exams, as shown in the table given below:

Exam

Weightage (%)

Topics Covered

NEET

10-15%

Allele definition, types, genetic interaction

CBSE

8-12%

Allele frequency, Hardy-Weinberg principle

AIIMS

6-10%

Genetic diseases caused by allelic dominance

JIPMER

7-11%

Allele examples, such as the ABO blood group

Types Of Questions Asked On The Topic Of Alleles In Different Exams

When the students sit to write exams on NEET, CBSE and others, they should expect the sorts of types of alleles. The following is the general table that describes the sort of questions.

Question Type

Description

Definition Questions

Define alleles and explain their role in genetics.

Identification of Allele Types

Identify dominant, recessive, co-dominant, and incompletely dominant alleles.

Genetic Interaction

Explain how different alleles interact to produce phenotypes.

Allele Frequency Calculations

Solve problems based on the Hardy-Weinberg principle.

Genetic Disease Identification

Recognize genetic disorders caused by allelic dominance.

Allele Examples

Provide examples of alleles, such as the ABO blood group system.

Advanced Concepts

Discuss idiomorphs and their significance in genetic studies.

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Conclusion

An allele or an allelomorph is the most elementary term in genetics that refers to different forms of genes existing at certain loci of the chromosomes. One of the significant tools a student of biology working to prepare for competitive exams, knowing what it is, how to define it, and examples of 'allele' will ensure victories in academics with enhanced comprehension of heredity and biodiversity.


Frequently Asked Questions (FAQs)

1. What is an allele?

Alleles are the pairs of genes that occupy a specific location on a chromosome.

2. What is an allele?
An allele is an alternative form of a gene that occupies a specific position (locus) on a chromosome. Alleles are different versions of the same gene that can result in different traits or characteristics.
3. How many alleles do genes contain?

Two — An creature that is alive might well have 2 of the same allele of a gene and two distinct alleles.

4. What are some examples of alleles?

The flower color of pea plants is determined by the recessive white allele and the dominant purple allele. Different eye color alleles for brown, blue, green, and black. Hair color alleles for blonde, brown, and black hair.

5. What is a human allele?

Alleles are genes that match; one comes from our biological father and the other from our biological mother. Every gene has two copies (strings of code that drive some biological function on our chromosomes). They may be the same, yet they also frequently have minute distinctions.

6. Why are certain alleles recessive and others dominant?

The connection between two genetic variants is referred to as dominant. Each gene has two alleles that an individual inherits from each parent.If the alleles are distinct, only one of the gene's alleles—referred to as the dominant gene—will be expressed. The additional allele, termed as the recessive one, has a hidden effect.

7. What is the difference between dominant and recessive alleles?
Dominant alleles are expressed in the phenotype even when only one copy is present, while recessive alleles are only expressed when two copies are present (homozygous recessive). Dominant alleles mask the effects of recessive alleles in heterozygous individuals.
8. What is meant by "allele dosage"?
Allele dosage refers to the number of copies of a particular allele an individual possesses. In diploid organisms, this can be 0 (no copies), 1 (heterozygous), or 2 (homozygous). Allele dosage can affect the intensity or degree of trait expression in some cases.
9. What is allelic heterogeneity?
Allelic heterogeneity occurs when different mutations in the same gene (different alleles) can cause the same genetic disorder or trait. This concept is important in understanding the genetic basis of diseases and the diversity of mutations that can affect a single gene.
10. How do alleles contribute to genetic polymorphism?
Genetic polymorphism refers to the presence of multiple alleles at a given locus within a population. These different alleles contribute to the variety of phenotypes observed, maintaining genetic diversity which can be advantageous for population survival.
11. How do alleles contribute to heterosis or hybrid vigor?
Heterosis, or hybrid vigor, occurs when the offspring of genetically distinct parents show improved or increased function of any biological quality. It often results from the combination of beneficial alleles from both parents, masking detrimental recessive alleles.
12. How do alleles contribute to quantitative traits?
Quantitative traits are influenced by multiple genes, each with potentially multiple alleles. The combined effects of these alleles, along with environmental factors, produce a continuous range of phenotypes rather than distinct categories.
13. How do alleles relate to the concept of genetic hitchhiking?
Genetic hitchhiking occurs when an allele changes frequency not because it is under natural selection, but because it is located close to another allele that is being selected for or against. This proximity on the chromosome causes the neutral allele to "hitchhike" along with the selected allele.
14. What is allelic dropout in genetic testing?
Allelic dropout is a phenomenon in genetic testing where one allele of a gene fails to amplify during PCR, leading to a false appearance of homozygosity. This can result in misdiagnosis in genetic testing and is a particular concern in prenatal and cancer diagnostics.
15. What is meant by "allelic spectrum" in disease genetics?
The allelic spectrum refers to the range and frequency of different alleles associated with a particular genetic disorder. Some diseases may have a narrow spectrum with only a few causative alleles, while others may have a wide spectrum with many different alleles contributing to the disease risk.
16. Can an individual have more than two alleles for a gene?
An individual typically has two alleles for each gene - one inherited from each parent. However, some genes can have multiple alleles in a population, known as multiple allelism. The individual still only carries two of these possible alleles.
17. How do alleles contribute to genetic variation?
Alleles contribute to genetic variation by providing different versions of genes within a population. This diversity allows for a range of traits and adaptability within species, which is crucial for evolution and survival in changing environments.
18. What is allele frequency?
Allele frequency refers to the proportion of a particular allele in a population relative to all alleles at that genetic locus. It's usually expressed as a percentage or a decimal and is important in population genetics studies.
19. How can environmental factors affect allele frequencies in a population?
Environmental factors can affect allele frequencies through natural selection. Alleles that confer advantageous traits in a particular environment may increase in frequency, while those that are disadvantageous may decrease, leading to changes in the population's genetic makeup over time.
20. What role do alleles play in genetic drift?
Genetic drift is the random change in allele frequencies in a population due to chance events. In small populations, certain alleles may become more or less common regardless of their adaptive value, potentially leading to the loss or fixation of alleles over time.
21. How do alleles contribute to genetic disorders?
Genetic disorders can result from mutations creating abnormal alleles. These may be dominant (only one copy needed to cause the disorder) or recessive (two copies needed). The presence and interaction of these alleles determine whether an individual develops the disorder.
22. What is allelic imbalance?
Allelic imbalance occurs when one allele of a gene is expressed at a higher level than the other allele in heterozygous individuals. This can result from various genetic or epigenetic factors and may have implications for trait expression and disease susceptibility.
23. How do alleles relate to the concept of penetrance in genetics?
Penetrance refers to the proportion of individuals with a particular allele (or genotype) who exhibit the associated phenotype. Some alleles may have incomplete penetrance, meaning not all individuals with the allele will show the expected trait, highlighting the complex relationship between genotype and phenotype.
24. What is meant by "allele-specific expression"?
Allele-specific expression refers to the phenomenon where one allele of a gene is expressed at a different level than the other allele. This can be due to genetic or epigenetic factors and can have significant implications for trait expression and disease risk.
25. How do alleles relate to the concept of pleiotropy?
Pleiotropy occurs when a single gene (and its alleles) affects multiple, seemingly unrelated phenotypic traits. Different alleles of a pleiotropic gene can therefore influence various aspects of an organism's phenotype simultaneously.
26. What is the relationship between alleles and phenotypes?
Alleles determine an organism's genotype, which in turn influences its phenotype (observable characteristics). The interaction between alleles (e.g., dominant-recessive relationships) and environmental factors ultimately shapes the expressed traits.
27. What is codominance in terms of alleles?
Codominance is a relationship between alleles where both are fully expressed in the phenotype of heterozygous individuals. Neither allele is dominant or recessive; instead, both contribute equally to the trait.
28. What is incomplete dominance in alleles?
Incomplete dominance occurs when one allele is not completely dominant over another. The heterozygous phenotype is intermediate between the two homozygous phenotypes, resulting in a blending of traits rather than one trait completely masking another.
29. How do alleles relate to Mendel's laws of inheritance?
Mendel's laws of inheritance describe how alleles are transmitted from parents to offspring. The law of segregation states that alleles separate during gamete formation, while the law of independent assortment describes how alleles of different genes are inherited independently of each other.
30. How do multiple alleles differ from polygenic inheritance?
Multiple alleles refer to more than two versions of a gene in a population, but an individual still only has two alleles. Polygenic inheritance involves multiple genes contributing to a single trait, with each individual possessing alleles from all involved genes.
31. How do alleles differ from genes?
While genes are segments of DNA that code for specific traits, alleles are different versions of the same gene. Multiple alleles can exist for a single gene, each potentially producing a different effect on the trait.
32. How do new alleles arise?
New alleles primarily arise through mutations in DNA sequences. These can be point mutations (changes in single nucleotides), insertions, deletions, or larger chromosomal changes. Some mutations create new functional alleles, while others may be neutral or detrimental.
33. What is allelic exclusion?
Allelic exclusion is a process in which only one allele of a gene is expressed in a cell, while the other is silenced. This phenomenon is particularly important in the immune system, where it ensures that each B or T cell produces only one type of antigen receptor.
34. How do alleles contribute to genetic load in a population?
Genetic load refers to the reduction in fitness of a population due to the presence of deleterious alleles. These harmful alleles contribute to the overall genetic burden of the population, potentially affecting its evolutionary potential and survival.
35. What is the relationship between alleles and genetic markers?
Genetic markers are specific DNA sequences with known locations on chromosomes. Alleles of these markers can be used to track the inheritance of nearby genes or to associate specific genomic regions with traits or diseases in genetic studies.
36. What is meant by "wild-type" allele?
The wild-type allele is the most common allele found in natural populations. It's often considered the "normal" or standard version of the gene, against which mutations or variations are compared.
37. What is meant by "allelic series"?
An allelic series refers to multiple alleles of a single gene that exist in a population. These alleles may have different effects on the phenotype, creating a range of possible trait expressions beyond simple dominant-recessive relationships.
38. What is the difference between genic and allelic heterozygosity?
Genic heterozygosity refers to having different alleles at a particular locus, while allelic heterozygosity specifically refers to having two different forms of the same allele. Allelic heterozygosity is a subset of genic heterozygosity.
39. What is the concept of "fitness" in relation to alleles?
Fitness, in genetic terms, refers to the relative ability of individuals with certain alleles to survive and reproduce in their environment. Alleles that confer higher fitness are more likely to be passed on to future generations, potentially increasing in frequency over time.
40. How do alleles relate to the Hardy-Weinberg equilibrium?
The Hardy-Weinberg equilibrium describes the stable frequencies of alleles in a population under specific conditions. It provides a null model against which to test for evolutionary processes, predicting how allele frequencies should behave in the absence of evolutionary forces.
41. How do alleles contribute to the concept of genetic burden?
Genetic burden refers to the cumulative effect of multiple alleles that may individually have small effects but collectively contribute significantly to disease risk or trait variation. Understanding the allelic contributions to genetic burden is crucial in complex trait genetics and personalized medicine.
42. What is allelic association in genetic epidemiology?
Allelic association, also known as linkage disequilibrium, refers to the non-random association of alleles at different loci. This concept is crucial in genetic mapping and understanding the inheritance patterns of complex traits and diseases.
43. How do alleles interact in epistasis?
In epistasis, the effect of one gene (and its alleles) is modified by one or more other genes. This means that the phenotypic expression of an allele at one locus can be altered or masked by alleles at another locus, creating complex inheritance patterns.
44. How do alleles relate to the concept of balancing selection?
Balancing selection is an evolutionary process that maintains multiple alleles in a population. This can occur through heterozygote advantage, frequency-dependent selection, or environmental heterogeneity, all of which can preserve genetic diversity at a particular locus.
45. How do alleles contribute to the phenomenon of transgressive segregation?
Transgressive segregation occurs when offspring exhibit more extreme phenotypes than either parent. This can result from the combination of complementary alleles from both parents, leading to trait values outside the parental range and potentially driving evolutionary novelty.

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