Use in clinical context
The majority of conditions and diseases are the result of multiple genetic and environmental factors. There are, however, some conditions that are the direct result of a genetic variant in a single gene. Examples include cystic fibrosis, where individuals with two copies of a recessive variant in the CFTR gene develop the condition, and Huntington disease where only a single variant of the HTT gene will lead to the disease.
Related terms
Dominant allele | Dominant phenotype | Gene | Genetic/genomic variation | Multifactorial inheritance | Recessive allele | Recessive phenotype
