Deletion

How it is used

Used in clinical genetics, cytogenetics and research. Reports describe deletions by size and location, such as 'a 3 bp deletion' or 'a 22q11.2 deletion'. Small insertions and deletions together are called indels. The verb is 'delete': 'exon 4 is deleted'.

Example sentences

1. The most common cystic fibrosis variant is a three-base deletion that removes one amino acid.

2. Microarray analysis found a small deletion on chromosome 22.

Common collocations

• large deletion
• in-frame deletion
• 22q11.2 deletion
• exon deletion
• deletions and duplications

Related terms

• mutationA permanent change in the DNA sequence. It may have no effect, cause disease or, occasionally, give an advantage.
• frameshift mutationA mutation that adds or removes a number of bases that is not a multiple of three, which shifts the way codons are read and usually produces a faulty, shortened protein.
• copy number variationA difference between people in the number of copies of a section of DNA, often thousands of base pairs or longer, caused by deletions or duplications.
• point mutationA change of a single base in the DNA sequence, for example a G replaced by an A.

More terms: Mutations and Genetic Variation

• variant
• SNP
• somatic mutation
• germline
• pathogenic