Sickle Cell Anemia: Point Mutation and Frameshift Mutation

Frameshift mutation = Refers to the shift of the reading frame of the entire DNA chain after mutation Deletion mutation = Loss of a single base either spontaneously or due to damage Insertion mutation = Acridine intercalates between adjacent DNA nitrogen bases causing the addition of extra bases into the new mRNA Point mutation = Involves changing a single nucleotide base in the DNA sequence

Genomic instability = Leads to changes in the cell genome and potential development of cancer Cancer development = Result of changes to DNA structure causing genomic instability Mutation aftermath = Permanent copy of necessary cell structure encoded by DNA DNA repair mechanisms = Sets of mechanisms that identify and correct damage in DNA molecules

Incorrect nucleotide bases incorporation = Causes damage during DNA replication Spontaneous mutation = Chemical changes leading to DNA damage Radiation exposure = Environmental factor causing chemical changes in DNA Frameshift mutations = Likely to occur when any number of bases are added or deleted, except for multiples of three

<p>Frameshift Mutation = Mutation where nucleotides are inserted or deleted, causing a shift in the reading frame Silent Mutation = Mutation that changes one base but does not affect the protein sequence Nonsense Mutation = Mutation that results in the presence of a premature stop codon Missense Mutation = Mutation that changes one nucleotide, altering the protein being translated into</p> Signup and view all the answers

<p>Transition Mutation = Changing a purine to another purine or a pyrimidine to another pyrimidine Transversion Mutation = Changing a purine to a pyrimidine or vice versa Silent Mutation = UAU (coded for Tyrosine) changed to UAC (coded for Tyrosine) Nonsense Mutation = UAU (coded for Tyrosine) changed to UAA (coded for STOP)</p> Signup and view all the answers

<p>Factor XI deficiency = GAA (coded for Glutamic Acid) changed to UAA (coded for STOP) Blood clotting disorder = GAA (coded for Glutamic Acid) changed to UAA (coded for STOP) Tyrosine to Serine substitution = UAU (coded for Tyrosine) changed to UCU (coded for Serine) Premature stop codon introduced = UAU (coded for Tyrosine) changed to UAA (coded for STOP)</p> Signup and view all the answers

<p>UV Radiation = Causes DNA damage and increases the risk of mutations Chemical Mutagens = Induce mutations by altering DNA structure or interfering with replication Ionizing Radiation = Generates free radicals leading to DNA damage and mutation X-ray Exposure = Causes breaks in DNA strands and promotes mutation formation</p> Signup and view all the answers

<p>Photoreactivation = Utilizes light energy to destroy abnormal covalent bonds in pyrimidine dimers Methylation = Restores original guanine structure by transferring methylation product to active site Direct reversal repair = Does not require a template for repair and addresses specific types of damage Frameshift mutations = Abnormal addition or deletion of nucleotides causing a shift in the reading frame</p> Signup and view all the answers

<p>Photolyase = Activates photoreactivation repair mechanism by absorbing light energy MGMT (Methyl guanine methyl transferase) = Restores guanine structure by transferring methylation product to active site DNA polymerase = Enzyme involved in DNA replication and repair processes Topoisomerase = Responsible for unwinding and winding DNA strands during replication and repair</p> Signup and view all the answers

<p>UV-induced pyrimidine dimers = Addressed by photoreactivation repair mechanism Methylation of guanine bases = Repaired through specific enzyme-mediated process Alkylation of O6 of guanine = Reversed by O6methylguanine methyltransferase activity Frameshift mutations = Resulting from abnormal addition or deletion of nucleotides</p> Signup and view all the answers

<p>Genomic instability = Tendency of genome to acquire changes due to impaired DNA repair mechanisms Cancer development = Result of accumulation of mutations, including those in DNA repair genes Environmental factors = External influences that can lead to DNA damage and affect repair processes DNA repair mechanisms = Processes that maintain genomic integrity by correcting DNA damage</p> Signup and view all the answers