Any organism is a by-product of both its genetic makeup and the environment. To understand this in detail, we must first appreciate some basic genetic vocabulary and concepts. Here, we provide definitions for the terms genotype and phenotype, discuss their relationship and take a look at why and how we might choose to study them.
What is the definition of a genotype?
In biology, a gene is a section of DNA that encodes a trait. The precise arrangement of nucleotides (each composed of a phosphate group, sugar and a base) in a gene can differ between copies of the same gene. Therefore, a gene can exist in different forms across organisms. These different forms are known as alleles. The exact fixed position on the chromosome that contains a particular gene is known as a locus.A diploid organism either inherits two copies of the same allele or one copy of two different alleles from their parents. If an individual inherits two identical alleles, their genotype is said to be homozygous at that locus.However, if they possess two different alleles, their genotype is classed as heterozygous for that locus. Alleles of the same gene are either autosomal dominant or recessive. An autosomal dominant allele will always be preferentially expressed over a recessive allele. The subsequent combination of alleles that an individual possesses for a specific gene is their genotype.
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Genotype examples
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Let’s look at a classic example – eye color.
- A gene encodes eye color.
- In this example, the allele is either brown, or blue, with one inherited from the mother, and the other inherited from the father.
- The brown allele is dominant (B), and the blue allele is recessive (b). If the child inherits two different alleles (heterozygous) then they will have brown eyes. For the child to have blue eyes, they must be homozygous for the blue eye allele.
Why is it important to study genotype vs phenotype?
Genotype
Phenotype
Definition
The set of genes in our DNA which are responsible for a particular traitAn organism’s observable characteristics and traits
Characterized by
Genotyping techniques such as WGS
Depends on
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The gene sequences an organism possessesGenotype, PLUS epigenetics and environmental factors
Inherited?
YesNo
Example
Genes encoding eye colorAn individual with brown eyes
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