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64) A scientist discovers a DNA-based test for the allele of a particular gene.

ID: 7211 • Letter: 6

Question

64) A scientist discovers a DNA-based test for the allele of a particular gene. This and only this allele, if homozygous, produces an effect that results in death at or about the time of birth. Of the following, which is the best use of this discovery?

A) To screen all newborns of an at-risk population
B) To design a test for identifying heterozygous carriers of the allele
C) To introduce a normal allele into deficient newborns
D) To follow the segregation of the allele during meiosis
E) To test school-age children for the disorder

68) Phenylketonuria (PKU) is a recessive human disorder in which an individual cannot appropriately metabolize a particular amino acid. This amino acid is not otherwise produced by humans. Therefore the most efficient and effective treatment is which of the following?

A) Feed them the substrate that can be metabolized into this amino acid.
B) Transfuse the patients with blood from unaffected donors.
C) Regulate the diet of the affected persons to severely limit the uptake of the amino acid.
D) Feed the patients the missing enzymes in a regular cycle, i.e., twice per week.



Can you please explain these two !! Appreciated ;-)

Explanation / Answer

64. B If we identify the heterozygotes for this allele, we can then try to prevent the mating of two heterozygotes which will gives the homozygous lethal genotype. In this way we can track the allele. 68. C As the patient cannot metabolize the amino acid, the lesser the amino acid in the diet the better. As only essential amino acids are not synthesized and must be given, the minimum dosage can be given to prevent any deficiency related sicknesses.