Mutation and Gene Editing in IB Biology

Flashcards covering key vocabulary and concepts related to mutation and gene editing in IB Biology.

Mutation

Any change to the DNA or RNA base sequence of a cell or virus.

Substitution Mutation

occurs when one or more nucleotides in a DNA sequence is replaced by another nucleotide.

Insertion Mutation

occurs when one or more nucleotides is added to a DNA sequence.

Deletion Mutation

occurs when one or more nucleotides are removed from a DNA sequence.

Point Mutation

changes one base in a DNA sequence.

Frameshift Mutation

occur due to insertions or deletions that change the reading frame of the genetic code.

Single-Nucleotide Polymorphisms (SNPs)

occur when a single nucleotide in a gene is changed, resulting in a different amino acid in a protein.

Polymorphism

refers to the occurrence of two different phenotypes within a population.

Gene

a segment of DNA that contains the instructions for building a protein.

Allele

an alternative version of a gene that may produce different phenotypes.

Phenotype

refers to the observable characteristics of an organism, influenced by its genotype and environment.

Codon

a sequence of three nucleotides that corresponds to a specific amino acid or stop signal during protein synthesis.

Mutagen

an agent that causes changes in the DNA sequence, potentially leading to mutations.

Radiation

can act as a mutagen, causing changes to the DNA sequence.

Germ Cell

reproductive cells that give rise to gametes (sperm and eggs).

Somatic Cell

any cells of the body except for germ cells.

Cancer

a disease characterized by uncontrolled cell division, often due to mutations.

Genetic Variation

refers to the diversity in gene frequencies within a population.

Natural Selection

the process whereby organisms better adapted to their environment tend to survive and produce more offspring.

Base Substitution Mutation

A mutation where a single nucleotide is replaced by another nucleotide.

Sickle cell anaemia

An example of a single-nucleotide polymorphism caused by a single base substitution in a gene required for making haemoglobin.

High Energy Radiation

A type of mutagen that damages DNA, including ultraviolet light, X-rays, and gamma-rays.

Germ Cells

Cells that develop into gametes such as sperm or eggs.

Somatic Cells

All cells which are not reproductive cells.

Neutral Mutations

Most mutations that occur within non-coding sections of DNA, which do not have a function.

Harmful Mutations

Mutations that negatively affect the survival and reproduction of the organism.

Beneficial Mutations

Mutations that may enhance survival and reproduction of the organism.

Proto-oncogenes

Genes that can lead to cancer when mutated in somatic cells, resulting in uncontrolled cell division.

Gene

A segment of DNA that contains the instructions for building a protein.

Allele

A variant form of a gene.

Phenotype

The observable characteristics of an organism.

Codon

A sequence of three nucleotides that corresponds to a specific amino acid.

Mutagen

An agent that causes genetic mutation.

Radiation

A type of mutagen that can cause mutations in DNA.

Cancer

A disease characterized by uncontrolled cell division, often due to mutations in somatic cells.

Gene knockout

A technique where a targeted gene is inactivated or removed from an organism, allowing scientists to study the impact on an organism of removing a gene.

CRISPR-Cas9

A gene editing technology that allows scientists to modify or delete specific sections of DNA, using the enzyme Cas9 and guide RNA (gRNA) to delete and/or edit genes.

Guide RNA (gRNA)

A molecule used to target a specific sequence in a gene, having a sequence of complementary bases to the target sequence.

Gene Therapy

A potential use of CRISPR-Cas9 to replace or repair a gene that is responsible for genetic diseases such as sickle cell anaemia.

Cas9

An enzyme used in CRISPR-Cas9 technology that cuts DNA at a specific location.

Ethical Issues of CRISPR

Certain potential uses of CRISPR that raise ethical concerns, necessitating regulatory considerations before implementation.

Sickle Cell Anaemia

A disease caused by a single base substitution mutation, which can potentially be treated using CRISPR technology.

Gene Editing Tool

CRISPR-Cas9 is classified as a gene editing tool that allows targeted modifications to DNA.

Guide RNA (gRNA)

A component of the CRISPR-CAS9 system that directs the Cas9 enzyme to the specific location in the genome.

Gene Therapy

A technique that modifies a person's genes to treat or cure disease.

Functional Constraint Hypothesis

Suggests that gene sequences are essential to the structure and function of the protein coded by the gene, leading to natural selection against mutations.

Mutations

Random changes that occur at any location within a genome.

Ethical Issues and CRISPR

Concerns that arise from the potential uses of CRISPR that must be addressed before implementation.

Genome Editing Technologies

Technologies that allow for the modification of an organism's DNA.