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The page below is a sample from the LabCE course Fundamentals of Molecular Diagnostics. Access the complete course and earn ASCLS P.A.C.E.-approved continuing education credits by subscribing online.

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Single nucleotide polymorphism substitution mutation diagram

When Nucleic Acids Get Altered

The reason to choose a particular molecular method can be influenced by disease detection, monitoring or therapy in certain patient populations.
Molecular methodologies can be used to identify alterations or variations or changes in DNA sequencing that can cause disease. Sequence alterations that are known to cause disease are termed mutations. These changes or mutations can be applied to areas of the clinical lab such as infectious disease, paternity, genetic testing, and pharmacogenetics.
Some of the more common alterations are:
Deletion: a missing nucleotide or other portion of DNA sequence
Insertion: an extra DNA nucleotide or other portion of DNA sequence
Missense: a nucleotide or sequence substitution that codes for a different amino acid
Nonsense: a nucleotide substitution that ends in early termination of the protein manufacturing process; usually due to a stop codon.
The most common alteration is a single base change or single nucleotide polymorphism (SNP) as shown in the image to the right.