A number of different types of mutations in the HBB gene can cause human β-thalassemia, a disease characterized by various level
s of anemia. Many of these mutations occur within introns or in upstream noncoding sequences. Explain why mutations in these regions often lead to severe disease, although they may not directly alter the coding regions of the gene.
Mutations in introns create alternative splicing site which in turn make mRNA with reduced or no translation.
Explanation:
Introns regulate the splicing of heterogenous RNA during post transcriptional modifications as well as affect the stability of mature mRNA. The stable mRNA is more likely to be translated into proteins. So, introns also regulate the translation of mRNA.
In human beta thalassemia, mutations in intron create alternative splicing sites which in turn affect the formation of beta globin chain of hemoglobin. Lack of beta globin chain reduces the amount of functional hemoglobin and causes anemia.
The cerebrum is the part of the brain that is responsible for processing the sensory information, critical thinking and learning. It stores this information and processing centers make predictions for various conditions. The Wernicke’s area and Broca’s area represent the areas of language present in the cerebral cortex and are associated with language and speech.
The respiratory centers that control your rate of breathing are in the brainstem or medulla. The nerve cells that live within these centers automatically send signals to the diaphragm and intercostal muscles to contract and relax at regular intervals.
