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. Alterations in the sequence of DNA are termed mutations. Sequence alterations or mutations can cause disease or sometimes are inconsequential. 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 or mutations 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.
