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Genetic Mutations

TermDefinition
Genes Genetic material that carries the instructions for the development and functioning of living organisms.
DNA Deoxyribonucleic acid, a molecule that contains the genetic instructions for growth, development, functioning, and reproduction of all known organisms.
Point mutations Changes in DNA at a single nucleotide level, either by insertion, deletion, or substitution of a nucleotide base.
Aneuploidy A condition where the number of chromosomes is abnormal, either by duplication or loss of an entire chromosome, resulting from an error in chromosome separation during meiosis.
Symptoms Physical or mental features or signs that indicate the presence of a disease or disorder.
Inherited Passed down from parent to offspring through genetic material.
Sperm or egg cells Reproductive cells involved in sexual reproduction (sperm in males and eggs in females).
Sickle cell disease A genetic disorder characterized by abnormal red blood cells that have a crescent or "sickle" shape. It is caused by a DNA point mutation in the HBB gene, resulting in the production of abnormal hemoglobin.
HBB gene The gene responsible for encoding the beta-globin protein, a component of hemoglobin in red blood cells.
Nucleotide The building block of DNA, consisting of a sugar molecule, a phosphate group, and a nitrogenous base (adenine, cytosine, guanine, or thymine).
Base substitution A type of point mutation where one nucleotide base is replaced by another in the DNA sequence.
Carrier An individual who has a recessive gene for a genetic disorder but does not exhibit symptoms.
DNA point mutations Point mutations in DNA occur when there is a change in a single nucleotide, which is the building block of DNA. This change can happen through three processes:
Insertion DNA Point Mutation - when an extra nucleotide is added to the DNA sequence.
Deletion DNA Point Mutation - when a nucleotide is removed from the DNA sequence.
Substitution DNA Point Mutation - when one nucleotide is replaced with a different nucleotide.
Chromosomal mutations Chromosomal mutations involve changes in larger segments of chromosomes (structures that carry genetic information). These changes can occur through several mechanisms:
Inversion Chromosomal Mutation - when a segment of the chromosome is reversed.
Translocation Chromosomal Mutation - when a segment of the chromosome breaks off and attaches to a different chromosome.
Created by: TeacherZ
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