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Mutational Screening

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Mutational screening is a process in which DNA segments are analyzed through different methods to find mutations, or an alteration in gene regions that may cause abnormalities. Research then continues in discovering the nature of this variation.
The process of screening genes for mutations became widely used in prenatal testing. In the past, most mutational diseases that were tested for were rare, but now studies are being conducted to detect mutations such as cancer.
In 1930, the process of mutational screening for errors in DNA began when newborns were tested for phenylketonuria, which causes a buildup of in amino acid buildup in the blood that causes mental retardation. Blood was taken from the child's foot. If PKU was discovered, it could be prevented with a specific diet. …show more content…
As scientists researched the diseases, they learned to test only some if there was a history of the disease in the family. All of these disease are caused by a mutation in just one gene.
Recently, there have been studies to discover what mutations may cause breast cancer.
In 1934, a chemist Asbjorn Folling in Norway carried out the first recorded instance of mutational screening. A mother who had two children told the chemist that one of her children's diapers had an foul odor. Folling tested the child's urine and found a biochemical imbalance due to PKU, or phenylketonuria, an inherited disease. This was the first instance of screening genes for a mutation.
The actual process of altering genes and viewing the effects of the mutation began with the research of Thomas Hunt Morgan.
Mutational screening consists of two main procedures. First, a primary screen detects a variation in a specific section of a DNA fragment. The second screen is then used to validate the primary screen and can also determine the nature of the mutation. This is only done if the primary screen did not perform this

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