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Genetic Testing And Newborn Screening Essay

1104 words - 4 pages

Genetic testing is the process of sequencing six billion letters of a human genome to possibly discover genetic differences, such as how cells carry the same genome but at the same time look and function different. Genetic testing is also the process that can give foresight into pathological diseases such as different types of cancer.
Millions of babies are tested each year in the United States by a process known as newborn screening. Newborn screening can detect disorders that will occur later in life and try to treat them earlier in life. Disorders like phenylketonuria a genetic disorder that causes mental retardation in newborn babies as they get older if not treated early at birth and hypothyroidism a disorder of the thyroid gland. Phenylketonuria is defined as an inherited disorder that increases the levels of a substance called phenylalanine in the blood. When it comes to any protein phenylalanine is a basic building block of all protein so that would mean that it would be found in all types of meats as well in vegetables and even milk.1
The signs and symptoms of PKU always very from mild to severe most of the time the severe case is found in infants who the infant appears perfectly normal until four to eight months or more down the road. With treatment being ignored the patient would show signs and symptoms of seizures, delayed development, behavioral problems, and psychiatric disorders these are the most sign and symptoms that are seen. Patients that go untreated will develop a musty or mouse like odor which is noted as a side effect of phenylalanine. Children with PKU show lighter skin and hair than those children who are not affected with PKU. A mutation found in the PAH gene that leads to formation of a nonfunctional phenylalanine hydroxylase instead of a functional phenylalanine hydroxylase. The cases to be appreciated in patient with phenylketonuria is when some patient have a server case in which the phenylalanine hydroxylase active site is nonfunctional where there is no catalytic property and the cases second is when the active site affinity is weak which means the substrate is not bound tightly to the active site causing catalytic properties to be very weak. The location of phenylketonuria gene is 12q232 and is known as a autosomal recessive trait.2,3


When medical conditions that are based on physical signs and symptoms a test called diagnostic testing is conducted. Diagnostic testing is used to narrow down a specific genetic or chromosomal condition that can possible be treated. The diagnostic testing is wonderful because it allows a person to decide how he or she wants to handle their medical disorder. Good things about diagnostic testing is it can prove beneficial for babies, adults, before birth, and throughout a person life there is a down side to diagnostic testing is it not functional for all genes and genetic conditions. A test that shows people who carry one copy of a gene mutations, but when present in two copies...

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