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Focus on genetic mutations, their types, and implications on proteins
Gene: A segment of DNA, the genetic code (blueprint of the body).
DNA Structure: Similar to LEGO blocks; determines body structure and function.
Definition: A random change in the DNA sequence (nucleotide order).
Causes: Mutagens (e.g., smoking, radiation).
Substitution: One base is exchanged for another.
Insertion: Extra base(s) are added into the DNA sequence.
Deletion: One or more bases are removed from the sequence.
Overview: One nucleotide replaces another, altering the DNA sequence:
Example: Original sequence changes from TAC
to TAC
-> C
substituted for A
resulting in the new sequence.
Overview: Inserting one or more nucleotides into a sequence:
Example: Adding guanine before a specific base yields a new sequence.
Overview: Removing nucleotides from the sequence:
Example: Deleting a base like G
early in the sequence alters the overall coding for proteins.
Changes in mutation can lead to modifications in the resultant proteins:
Some mutations may be silent (no effect on amino acids), missense (leading to a change in one amino acid), or nonsense (early STOP codon).
Silent Mutation: No change in the resulting amino acid.
Missense Mutation: Alters one amino acid in the protein sequence.
Nonsense Mutation: Introduces a premature STOP codon, truncating the protein.
Frameshift Mutation: Causes the reading frame of the codons to shift, affecting several subsequent amino acids.
Beneficial Mutations: Can enhance survival (e.g., camouflage in animals).
Negative Mutations: May lead to diseases or genetic disorders (e.g., sickle cell anemia).
Neutral Mutations: No significant effect on organism's fitness.
Process Overview: DNA transcribes into mRNA, which is translated into proteins.
Transcription: DNA to mRNA.
Translation: mRNA to protein at the ribosome.
Importance of DNA bases and mutations in affecting the resulting polypeptides.
DNA: Double-stranded, contains thymine, deoxyribose sugar.
RNA: Single-stranded, contains uracil, ribose sugar.
Homeostasis at the cellular level is maintained by cell membranes:
Selective Permeability: Controls what enters and exits the cell.
Types of transport: Passive transport (no energy) and active transport (requires ATP).
Prokaryotic Cells: No nucleus, smaller, simpler structure.
Eukaryotic Cells: Have a nucleus, larger, complex structures with specialized organelles.
All living things consist of cells, which are the fundamental unit of life.
Cells arise from pre-existing cells.
Biomolecules: Include carbohydrates, lipids, proteins, and nucleic acids (RNA/DNA).
Each has unique functions essential for life processes.
Understanding genetic mutations is crucial for comprehending molecular biology, genetics, and their implications on health and disease.
Focus on genetic mutations, their types, and implications on proteins
Gene: A segment of DNA, the genetic code (blueprint of the body).
DNA Structure: Similar to LEGO blocks; determines body structure and function.
Definition: A random change in the DNA sequence (nucleotide order).
Causes: Mutagens (e.g., smoking, radiation).
Substitution: One base is exchanged for another.
Insertion: Extra base(s) are added into the DNA sequence.
Deletion: One or more bases are removed from the sequence.
Overview: One nucleotide replaces another, altering the DNA sequence:
Example: Original sequence changes from TAC
to TAC
-> C
substituted for A
resulting in the new sequence.
Overview: Inserting one or more nucleotides into a sequence:
Example: Adding guanine before a specific base yields a new sequence.
Overview: Removing nucleotides from the sequence:
Example: Deleting a base like G
early in the sequence alters the overall coding for proteins.
Changes in mutation can lead to modifications in the resultant proteins:
Some mutations may be silent (no effect on amino acids), missense (leading to a change in one amino acid), or nonsense (early STOP codon).
Silent Mutation: No change in the resulting amino acid.
Missense Mutation: Alters one amino acid in the protein sequence.
Nonsense Mutation: Introduces a premature STOP codon, truncating the protein.
Frameshift Mutation: Causes the reading frame of the codons to shift, affecting several subsequent amino acids.
Beneficial Mutations: Can enhance survival (e.g., camouflage in animals).
Negative Mutations: May lead to diseases or genetic disorders (e.g., sickle cell anemia).
Neutral Mutations: No significant effect on organism's fitness.
Process Overview: DNA transcribes into mRNA, which is translated into proteins.
Transcription: DNA to mRNA.
Translation: mRNA to protein at the ribosome.
Importance of DNA bases and mutations in affecting the resulting polypeptides.
DNA: Double-stranded, contains thymine, deoxyribose sugar.
RNA: Single-stranded, contains uracil, ribose sugar.
Homeostasis at the cellular level is maintained by cell membranes:
Selective Permeability: Controls what enters and exits the cell.
Types of transport: Passive transport (no energy) and active transport (requires ATP).
Prokaryotic Cells: No nucleus, smaller, simpler structure.
Eukaryotic Cells: Have a nucleus, larger, complex structures with specialized organelles.
All living things consist of cells, which are the fundamental unit of life.
Cells arise from pre-existing cells.
Biomolecules: Include carbohydrates, lipids, proteins, and nucleic acids (RNA/DNA).
Each has unique functions essential for life processes.
Understanding genetic mutations is crucial for comprehending molecular biology, genetics, and their implications on health and disease.