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6. One form of severe thalassemia is known to be the result of a mutation that c

ID: 252169 • Letter: 6

Question

6. One form of severe thalassemia is known to be the result of a mutation that causes abnormal RNA splicing because of a five nucleotide deletion that disrupts the first splice donor signal of the beta globin pre-mRNA. All thalassemias result in a reduced rate of synthesis of one of the globin chains either alpha or beta globin) that make up hemoglobin. Which of the following techniques would best show the presence of the abnormal splicing in a suspected carrier of the disease? A) Analysis to detect altered mobility of beta globin protein by electrophoresis B) Analysis to detect decreased oxygen binding by red blood cells C Analysis to detect altered size of beta globin protein D Analysis to detect altered DNA sequence of promoter regions E) Analysis to detect altered size of beta globin mRNA

Explanation / Answer

Answer - E.Analysis to detect altered size of beta globin mRNA

Due to disrupt the 1st splice donor signal which will cause an exon to be skipped. So mRNA formation is abnormal and decrease in size.

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