1.
DNA Mutation: Types, Causes, and Consequences
A mutation is a permanent change in the nucleotide sequence of DNA, altering the genetic
"instructions" of the cell.
Types of Mutations
Scale of Change Description Example
Point (Substitution) One nucleotide replaced by Sickle cell anemia (A
another \rightarrow T)
Insertion/Deletion Addition or removal of Causes frameshifts
nucleotides
Duplication A DNA segment is copied Extra gene copies
Inversion Segment orientation is flipped Disrupted gene function
Translocation Segment moves to another Can activate oncogenes
chromosome
Effects on Protein
● Silent: No change in amino acid sequence due to code redundancy.
● Missense: One amino acid is swapped for another.
● Nonsense: Creates a premature STOP codon, shortening the protein.
● Frameshift: Shifts the entire triplet reading frame, usually resulting in nonfunctional
proteins.
2. Cancer and the Cell Cycle
Cancer is a failure of homeostatic mechanisms regulating mitosis, leading to uncontrolled
proliferation and metastasis.
● Proto-oncogenes: Stimulate normal growth; mutations turn them into oncogenes ("stuck
gas pedal").
● Tumor Suppressor Genes: Inhibit division; mutations disable these "brakes" (e.g., p53
gene).
Management and Prevention
● Management: Surgery (removal), Radiotherapy (localized DNA destruction), and
Chemotherapy (targeting all rapidly dividing cells).
● Prevention: Avoiding carcinogens (tobacco, UV), vaccination (HPV), and regular
screening (Mammograms, Pap smears).
3. Chromosomes, Loci, and Linkage
● Chromosome: A thread-like structure of DNA and histone proteins. Humans have 46 (23
pairs).
● Locus: The specific physical "address" of a gene on a chromosome.
● Linkage: Genes located physically close on the same chromosome tend to be inherited
together because they are less likely to be separated by crossing over during meiosis.
4. The Sequence of Genetic Processes
I. DNA Replication (S-Phase of Interphase)
1. Unwinding: Helicase opens the helix at the replication fork.
2. Priming: Primase adds an RNA starter.
3. Elongation: DNA Polymerase adds nucleotides (5' \rightarrow 3'). The Lagging Strand
forms Okazaki fragments.
4. Ligation: DNA Ligase seals the sugar-phosphate backbone.
II. Cell Division (Mitosis)
● Prophase: Chromatin condenses; spindle forms.
● Metaphase: Chromosomes align at the equator.
● Anaphase: Sister chromatids separate to opposite poles.
● Telophase: Nuclear envelopes reform.
● Cytokinesis: Physical splitting of the cytoplasm.
III. Protein Synthesis (The Central Dogma)
1. Transcription (Nucleus): RNA Polymerase copies DNA into mRNA. In eukaryotes,
introns are spliced out.
2. Translation (Ribosome): mRNA is read in codons. tRNA molecules bring specific amino
acids to form a polypeptide chain.
💡 Core Summary Table
Process Purpose Key Enzyme/Organelle
Replication Duplicate Genome DNA Polymerase
Mitosis Tissue Growth/Repair Spindle Fibers
Transcription Create RNA Template RNA Polymerase
Translation Build Protein Ribosome
Fact Check: DNA replication is "semi-conservative," meaning each new DNA molecule consists
of one original strand and one newly synthesized strand. This ensures high-fidelity inheritance
of genetic information.