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Essay on junk | ||
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This is the first 1,000 characters of 894 words (3.58 pages) in the essay titled junk Phenylketonuria is one of the commonest inherited disorders - occurring in approximately 1 in 10,000 babies born in the U. S. It occurs in babies who inherit two mutant genes for the enzyme phenylalanine hydroxylase (PAH). This enzyme normally breaks down molecules of the amino acid phenylalanine that are in excess of the body s needs for protein synthesis.Because we inherit two copies of the gene for the enzyme, both must be defective to produce the disease. A laboratory test that measures how quickly an injection of phenylalanine is removed from the blood can distinguish a person who has one PKU gene from a person who has none, but the person with one is perfectly healthy because the unmutated allele produces enough of the enzyme. However, these heterozygous individuals are carriers of the disease. -------------------------------------------------------------------------------- The phenylalanine tolerance test. A short time after administering a measured amount of phenylalanine to the subject, the concentration of phenylalanine in the blood plasma is measured. The level is usually substantially higher in people who carry one PKU gene (even though they show no signs of disease) than in individuals who are homozygous for the unmutated gene. Both parents must be heterozygous (i.e., must be carriers of the trait) to produce a child with PKU. The chance of their doing so is 1 in 4. -------------------------------------------------------------------------------- Ina... |
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Keywords: amino acid phenylalanine, enzyme phenylalanine hydroxylase, phenylketonuria, pku, babies born, fortunately, protein synthesis, heterozygous, homozygous, allele, blood plasma, drop of blood, mutant genes, tolerance test, inherited disorders, genetic screening, genetic defect, laboratory test, simple test, pah