One can identify phenylketonurics and PKU carriers (heterozygotes) by means of a phenylalanine tolerance test. One injects a large dose of phenylalanine into the bloodstream and measures its clearance from the blood by measuring serum phenylalanine levels at regular intervals. Sketch curves showing relative blood phenylalanine concentration versus time that you would expect to be displayed by (a) a PKU patient, (b) a heterozygote, and (c) a normal individual. What kind of tolerance test could you devise to distinguish between PKU resulting from either phenylalanine hydroxylase deficiency or dihydropteridine reductase deficiency?
Nucleotides
It is an organic molecule made up of three basic components- a nitrogenous base, phosphate,and pentose sugar. The nucleotides are important for metabolic reactions andthe formation of DNA (deoxyribonucleic acid) and RNA (ribonucleic acid).
Nucleic Acids
Nucleic acids are essential biomolecules present in prokaryotic and eukaryotic cells and viruses. They carry the genetic information for the synthesis of proteins and cellular replication. The nucleic acids are of two types: deoxyribonucleic acid (DNA) and ribonucleic acid (RNA). The structure of all proteins and ultimately every biomolecule and cellular component is a product of information encoded in the sequence of nucleic acids. Parts of a DNA molecule containing the information needed to synthesize a protein or an RNA are genes. Nucleic acids can store and transmit genetic information from one generation to the next, fundamental to any life form.
One can identify phenylketonurics and PKU carriers (heterozygotes) by means of a phenylalanine tolerance test. One injects a large dose of phenylalanine into the bloodstream and measures its clearance from the blood by measuring serum phenylalanine levels at regular intervals. Sketch curves showing relative blood phenylalanine concentration versus time that you would expect to be displayed by (a) a PKU patient, (b) a heterozygote, and (c) a normal individual. What kind of tolerance test could you devise to distinguish between PKU resulting from either phenylalanine hydroxylase deficiency or dihydropteridine reductase deficiency?
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