A mutation that cause alpha-thalassemia, a human blood disorder caused by the ab

Question

A mutation that cause alpha-thalassemia, a human blood disorder caused by the absence or reduction of the alpha-subunit of hemoglobin, contains a deletion of two nucleotides just upstream of the AUG initiation codon. The normal version of the gene has the sequence CCCACCATG, where the mutant has the sequence CCC**CATG.(* = deleted base) Does this particular deletion mutation cause a frameshift? Why or why not? why do you think this mutation causes alpha -thalassemia? The chromosome of Mycobacterium tuberculosis contains 18% adenin. What is the percent G+C in the genome? What is the percent U in the mRNA? In bacteria, incorrect amino acids are inserted during translation at a rate of approximately 10^-3 (one incorrect amino acid per 1000 incorporated). if an incorrect amino acid is inserted into a crucial position of an essential protein, what will the consequences be for the cell? Explain.

Explanation / Answer

Ans 1.

Yes this is a frame shift mutation as it has resulted from the deletion of two bases from the DNA and will result in the translation of the genetic code that has unnatural reading frame from the mutation point to the end of the gene .

The alpha thalassemia results from the deletion of HBA1 and HBA2 genes that otherwise provide instructions for making alpha globin protein which is the subunit of hemoglobin.

The shortage of these genes prevent the formation of normal hemoglobin and produce abnormal hemoglobin called as Hb bart or Hemoglobin H which causes anemia and other health problems associated with alpha thalassemia.

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