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  1. “Missense mutation, this is when the wrong nucleotide is added within the coding region of a protein gene and this changes the amino acid that is incorporated into the resulting protein.
  2. Nonsense mutations, the result of the wrong nucleotide being added within the coding region of a protein gene, creating a stop codon.  The resulting protein will be shorter then it supposed to be, or truncated.
  3. Frameshift mutations – caused by the loss or addition of a nucleotide that changes how the pattern of three nucleotides per codon is read. The result is that, from this point forward, completely different amino acids may be incorporated into the protein.”  (Stearns, 2014)

 


The easiest explanation of the search for chromosomal and gene mutations is from one of Saskatoon’s genetic doctors, Dr. Kelly Davis.  She explains that best way to think about looking for mutated genes or a point mutation is like looking for a book in the library that you are not even sure if it exists.  When you walk through the door of the library (your DNA) you start looking around to see if you what you are looking for pops out (chromosome abnormalities).  You notice an area that you think would be worth looking at, so you go to that section (a specific chromosome).  You examine the section and then narrow down to the shelf (gene), then the book (point mutation).  When you open the book, you take a quick look through the book (deeper into the mutation) and you find the chapter, then paragraph and so on to the single letter.  If no abnormalities were found on the chromosomes right off the start, there is no need to continue down that rabbit hole (Davis, 2017).

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