A child was born with very high levels of phenylalanine in her blood. However, a follow-up test showed that the child has normal alleles for phenylalanine hydroxylase.

a. Propose a hypothesis to explain how the child could have high levels of phenylalanine yet have no mutation of the PAH gene.

b. What test or tests would you do to show your hypothesis is correct?

c. What results would you expect from your tests if your hypothesis is correct?

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Elin HesselLv2

28 Sep 2019

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. Carlos and Sophia have brought their child Maria to your hospital. She has lower than normal blood O₂ levels and other symptoms of Ã thalassemia, although those symptoms are not as severe as many cases of this disease. A Northern blot was done on the mRNA from Maria using a probe that binds to the third exon of the Ã globin gene. The Northern blot showed a band of normal size and density. Mariaâs parents are of Hispanic (Mediterranean) origin, and they do not know if they may be distantly related.

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. A child with very low blood oxygen levels was given a test foralpha thalassemia The test was a Northern blot test using astandard probe that binds to alpha globin mRNA. The resultingNorthern blot had three bands, indicating the child has threedifferent sizes of alpha globin mRNA molecules. One is normal size,one is larger than normal, and one is smaller than normal. Theparents of the patient are both from Mediterranean countries butthere is no reasonable chance that they are related.

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