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Introduction to Genetic Testing  > 

What is a mutation?

Mutation is a change in the original DNA sequence of a gene. Mutations come in different forms such as substitution of a nucleotide with another one, deletion of single or a group of nucleotides, insertion of one or more unnecessary nucleotides and so on. Mutations could potentially change the correct codes of the DNA and consequently result in a defective protein structure.


A prevalent form of a mutation is substitution of a nucleotide by another one.


Normal DNA sequence:         Intermediate step:              Completed mutation:

ATAGGCTAGAATCC                       ATAAGCTAGAATCC                    ATAAGCTAGAATCC                                        
TATCCGATCTTAGG                       TATCCGATCTTAGG                     TATTCGATCTTAGG


Substitution of an A for G in the original DNA sequence is a mutation and is completed by subsequent substitution of its complement from a C to a T.

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