Genomic Services

Mutation Analysis

Overview

Genetic mutations can arise in many forms within germ-line and somatic cells, and commonly lead to disease. Mutations can be located within introns and exons, and when present in the intron-exon boundary can affect splicing. Missense and nonsense mutations, as well as insertions and deletions are all important genetic mutations that can be targeted and analyzed using Retrogen's Mutation Analysis Service.

Missense Mutations

When a single nucleic acid substitution is made, causing translation of a different amino acid, the mutation is considered Missense. Not all missense mutations have detrimental effects on their resulting proteins, for example if an amino acid is changed to another with similar chemistry, or if the change is made in a non-active site that doesn't also affect the structure, then these could also be classified as a "silent" mutation.

Nonsense Mutations

A non-sense mutation occurs when a point mutation results in a stop-codon anywhere within the open reading frame, resulting in a truncated poly-peptide, which usually isn't functional.

Insertions and Deletions (Indels)

Insertions occur when any number of nucleotides are added into a sequence, and a deletion is the opposite case, where there has been a loss of nucleotides in the sequence. Collectively referred to as "Indels," they can be a cause of frame-shift mutations when the change in nucleotides doesn't occur in multiples of three.

Benefits of Retrogen's Mutation Analysis Service

The typical workflow for mutation analysis utilizes PCR and sequencing to target and investigate your regions of interest. Retrogen's workflow is quick, effective and flexible. We'll work with you to develop an assay that meets your project needs. Contact us to today to speak with a Project Manager and begin your mutation analysis project.

Retrogen's Mutation Analysis Service

DNA purification  —>  Primer Design  —>  PCR Amplification of Targets  —>  Sequencing  —>  Data Analysis