A gene codes for a specific polypeptide that can affect a specific trait or characteristic in an organism
Eg. blood type
Alternative forms of a gene can exist, these various specific forms are called alleles
Note that although alleles are different forms of the same gene, they all still occupy the same locus on the chromosome
New alleles occur through mutations
Multiple alleles can exist for a gene that determines a specific trait
Each allele results in a different variation of that trait
Eg. blood types A, B, AB and O
The chromosomes of eukaryotic cells occur in homologous pairs (there are two copies of each chromosome, one copy inherited from each parent) which means that cells have two copies of every gene
As a result, a cell possesses two alleles of every gene within its nucleus
When the two alleles at a locus are the same/identical they are described as homozygous
When the two alleles at a locus are different they are described as heterozygous
Chromosomes showing genes, loci and alleles
Differences between Alleles
Alleles differ from each other by one or only a few bases
Even a very small change in base sequence can bring about a large effect in gene function, with a large knock-on effect on the phenotype
Even though different alleles of a gene have slightly different base sequences, they still occupy the same locus on the chromosome
Since the Human Genome Project, sophisticated techniques can analyse different alleles
These techniques are becoming faster, more accurate and more accessible to individuals
Comparable sequences can be analysed down to individual bases to determine evolutionary relationships
The more differences in base sequence, the further apart two species are in evolutionary terms
The exact positions where bases differ between alleles are called SNPs or snips (Single Nucleotide Polymorphisms)
An allele can have several snips but still only differ by a few bases from its other allele
Exam Tip
Use the term allele wherever possible in written answers, as it's always a more precise term than gene.