NHGRI logo
Genotype_hero

​Genotype

updated: May 20, 2022

Definition

A genotype is a scoring of the type of variant present at a given location (i.e., a locus) in the genome. It can be represented by symbols. For example, BB, Bb, bb could be used to represent a given variant in a gene. Genotypes can also be represented by the actual DNA sequence at a specific location, such as CC, CT, TT. DNA sequencing and other methods can be used to determine the genotypes at millions of locations in a genome in a single experiment. Some genotypes contribute to an individual’s observable traits, called the phenotype.

 Genotype


Narration

Genotype, very simply, is the version of a DNA sequence that an individual has. There's a large amount of DNA that we all have in common--of course, that's why we're all humans--but there's also a large amount of variation in sequence among individuals. And those specific differences in sequence, when usually applied to an individual gene, are called a genotype. These days, with the ability to test for many different sequence differences between individuals, genotype has taken on a connotation which frequently refers to a difference in sequence in a specific place in a specific gene. When used in that way, it's usually related to another term, called phenotype, which is the change in sequence to which the genotype refers. It is frequently, not always, but is frequently related to a change in an external trait; something that's observable, like height, hair color, or occurrence of disease. And so in that case, we talk about a genotype-phenotype correlation. Then what we're talking about is, well, here's a change in DNA sequence; why is it important? It's important because it leads to an observable change in a trait in a person. And that change in trait can be positive, it can be negative, or it could just be a difference.