18 Questions
What is a point mutation?
A substitution of one base by another in DNA
What is a transition mutation?
A change of a pyrimidine with another pyrimidine or purine with another purine
What is the effect of a silent mutation?
No detectable change in the amino acid sequence
What is an example of a hemoglobin abnormality?
Hb Bristol
What is a missense mutation?
A change in the amino acid sequence
What is a type of genetic disorder caused by a point mutation?
Sickle cell anemia
What is the result of deleting 3 nucleotides or multiples of 3 from the coding region?
A protein with a missed amino acid or acids
What is the effect of deleting one or two nucleotides within the termination sequence?
Reading through a termination signal until another nonsense codon is reached
What is the result of an insertion of nucleotides?
The same effects as deletions
What is the primary function of the CFTR protein?
Helping to maintain the balance of salt and water within a cell
What is the most common cause of Cystic Fibrosis?
Deletion of 3 nucleotides from the CFTR gene
What is the effect of the delta F508 mutation on the CFTR protein?
It causes the protein to fold abnormally
What is the underlying genetic basis of sickle cell anemia?
Inheritance of two mutant genes that code for synthesis of the β globin chains
What is the consequence of the point mutation in the β-globin chain in sickle cell anemia?
Replacement of glutamate with valine
What is the result of the polymerization of deoxyhemoglobin S inside the RBC?
Formation of insoluble fibrous polymers
What is the term for the condition characterized by lifelong episodes of pain, chronic hemolytic anemia, and increased susceptibility to infections?
Sickle cell anemia
What type of mutation is the result of deletion or insertion of nucleotides in DNA?
Frameshift mutation
What is the consequence of a deletion of a single nucleotide in the coding strand of a gene?
Garbled translation of the mRNA distal to the site of deletion
Test your knowledge on gene mutations, their types, effects, and correlation to clinical conditions. Learn about the causes of mutations and their impact on DNA.
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