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Rey Williams was a small but healthy baby girl. The family pediatrician wasn’t w

ID: 259406 • Letter: R

Question

Rey Williams was a small but healthy baby girl. The family pediatrician wasn’t worried as both her parents were petite. However, at about the age of 13 months Rey stopped running around, tired easily, was pale and lost her appetite- symptoms that could not be explained by a recent flu bug going around as it lasted for months. Concerned the family pediatrician Dr. Wright decided to draw Rey’s blood to check for inherited blood-disorders.

At the next office visit, Dr. Wright sat Rey’s mother down and gently gave her the bad news. As he suspected it was determined that Rey had Thalassemia- an inherited disorder resulting from a defective for ?-globin protein- and thus defective Hemoglobin.

?-thalassemia patients are treated with frequent transfusions requiring many hospital visits, but this is not a cure. Individuals with severe forms of ?-thalassemia often die in mid-teens. Dr.Wright suggested to Rey’s parents that she may be a candidate for experimental gene therapy but first they needed a quick test to see if Rey had the kind of defect that would qualify for gene therapy. They isolated mature mRNA from Rey’s RBCs and from a person without Thalassemia(N). They then mixed the mRNA with single stranded genomic DNA sequences of the Beta Globin gene to allow for hybridization and observed it by electron microscopy. Double-stranded regions(hybridized) are represented by thick lines, and single-stranded regions (un-hybridized) are represented by thin lines.

Q1. What do the single stranded regions represent? (0.5)

A. Introns

B. Exons

C. 3’UTR

D. 5’ UTR

B-Globin Genomic DNA sequence Normal Beta globin mRNA B-Globin DNA+ Reys's Beta globin mRNA

Explanation / Answer

Ans d) 5’UTR

It is the untranslated area which is also known as 5’-untranslated region and it is also known as leader RNA at times. It is the mRNA region which is located upstream from the initiation codon and helps in the process of regulation of translation of a transcript.

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