A number of different types of mutations in the HBB gene can cause human -thalas

Question

A number of different types of mutations in the HBB gene can cause human -thalassemia, a disease characterized by various levels 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... Answer: Mutations in introns may affect RNA splicing. Mutations in upstream sequences may disrupt transcription factor. Mutations in introns may affect mRNA stability or translation.

Explanation / Answer

HBB also referred as beta-globin, hemoglobin beta etc., is a globin protein.

HBB is encoded by the HBB gene on human chromosome 11. Mutations in the gene produce several variants of the proteins which are implicated with genetic disorders such as sickle-cell disease and beta thalassemia, as well as beneficial traits such as genetic resistance to malaria.

Beta thalassemia

Total or partial absence of HBB causes a genetic disease called beta thalassemia. Total loss called, thalassemia major or beta-0-thalassemia, is due to mutation in both alleles, and this results in failure to form beta chain of haemoglobin. It prevents oxygen supply in the tissues. This mutation can also happen in introns, which can effect the RNA splicing process that ultmately will change the protein sequence.

Related Questions

Navigate

• Browse (All)
• Browse A
• Subjects

Integrity-first tutoring: explanations and feedback only — we do not complete graded work. Learn more.