What is an allele?
An allele is a specific version of a gene. Most genes have a particular place on a chromosome called a locus. At that locus, different individuals can carry different DNA sequences — those different sequences are alleles. Alleles cause variation in the same trait (for example, different eye colors or flower colors).
How alleles relate to genes and DNA (step by step)
- Gene: a stretch of DNA that gives instructions for a trait or a protein.
- Chromosome: a long DNA molecule; genes are arranged along chromosomes.
- Locus: the position on a chromosome where a particular gene sits.
- Allele: one of the alternative DNA sequences you can find at a locus.
- Diploid organisms (like humans) have two copies of each chromosome, so they usually carry two alleles for each gene: one inherited from the mother and one from the father.
Key terms
- Genotype: the allele combination an individual has at a gene (for example AA, Aa, or aa).
- Phenotype: the observable trait or characteristic that results (for example blue eyes or purple flowers).
- Homozygous: two identical alleles at a locus (AA or aa).
- Heterozygous: two different alleles at a locus (Aa).
Types of allele interactions
- Dominant and recessive: A dominant allele (A) masks the effect of a recessive allele (a) in a heterozygote. Phenotype of AA and Aa will be the same if A is dominant.
- Incomplete dominance: The heterozygote shows an intermediate phenotype (for example red x white flowers produce pink flowers).
- Co-dominance: Both alleles are expressed together (for example AB blood type: both A and B antigens appear).
- Multiple alleles: More than two allele variants exist in the population for a gene (for example the ABO blood system has three common alleles: IA, IB, i).
- Sex-linked alleles: Genes on sex chromosomes (like X) can show different inheritance patterns because males have only one X.
How alleles are inherited (basic Mendelian overview)
During meiosis, the two alleles an individual has are separated into different gametes (egg or sperm). Each gamete receives one allele. When two gametes fuse at fertilization, the offspring gets one allele from each parent and so ends up with two alleles for that gene.
Punnett square example: cross Aa x Aa
Parents: Aa x Aa
Gametes: A, a A, a
Punnett square:
A a
A AA Aa
a Aa aa
Genotype ratio: 1 AA : 2 Aa : 1 aa
Phenotype (if A is dominant): 3 show dominant trait : 1 show recessive trait
Real examples
- Pea plants (Mendel): The allele for purple flowers (P) is dominant to the allele for white (p). A plant with PP or Pp has purple flowers; pp has white.
- Human ABO blood type: Three alleles at one gene: IA and IB are co-dominant to each other and both are dominant over i. Combinations give blood types A, B, AB, or O.
Population-level idea: allele frequency
Allele frequency describes how common an allele is in a population. Population genetics uses these frequencies to study evolution. In a large random-mating population with no evolutionary forces acting, allele frequencies relate to genotype frequencies by the Hardy-Weinberg equation: p^2 + 2pq + q^2 = 1 (for two alleles p and q).
How new alleles arise and why they matter
- New alleles usually come from mutations (changes in DNA).
- Different alleles can affect health (disease-causing alleles), response to medicines, physical traits, and adaptation.
- Genetic testing can identify which allele(s) a person carries for medically important genes.
Common misconceptions
- Not every trait is determined by a single gene; many traits are polygenic (many genes) and influenced by the environment.
- Dominant does not mean 'common' or 'better' — it only refers to how an allele’s effect appears in a heterozygote.
Summary (quick)
An allele is one of several versions of a gene at the same locus. Alleles explain genetic variation. They combine through inheritance to form genotypes, which produce phenotypes. Knowing allele types and patterns of inheritance helps predict traits, understand diseases, and study evolution.
If you want, I can: show more Punnett-square practice problems, explain Hardy-Weinberg with numbers, or show how sex-linked alleles behave differently. Which would you like next?