Question

In 1986, Chehab et al. (Lancet 327:3-5) described a new recessive allele arising from a single base change in the Hemoglobin B gene (HBB), which causes β-thalassemia. This new allele, named GLN39TER, is the second most common β-thalassemia mutation in Italy, accounting for a third of cases, and the most common in Sardinia, accounting for 90% of cases there. What type of mutation resulted in this recessive allele?

A. Transition B. Transversion C. Frameshift D. Transposition E. Transformation

Answer 1

Transversion mutaion ocuurs in this recessive allele. Because the Beta thalassemia is occured due to the improper synthesis of Hemoglobin B gene. The new allele GLN39TER is formed due to the point mutation occured in that gene. In this mutation the pyramidines are changed due to this mutation occurs. So that the gene actually translate gln aminoacid but due to mutation it undergoes termination.