Mutation Biology

25 July 2022
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Mutation
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a change in the genetic material of a cell; cause by a mistake during DNA replication.
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Gene Mutations
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changes to a single gene.
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Point Mutations - involve changes in one or a few nucleotides/bases.
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involve changes in one or a few nucleotides/bases.
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Substitutions
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one base is changed to a different base (May or may not affect the amino acid).
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Insertions
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adds a new base to the DNA sequence
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Deletions
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removes a base from the DNA sequence
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Frameshift Mutation
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caused by insertions and deletions that changes the reading sequence. Usually causes a change in the amino acid sequence.
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Missense
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point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. ex: Sickle Cell Anemia and ALS (Lou Gehrig's Disease)
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Nonsense
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codon which codes for a premature stop codon. ex: Muscular Dystrophy and Cystic Fibrosis
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Chromosomal mutation
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change in the number or structure of a chromosome. Change the location of genes on a chromosome Change the number of copies of genes.
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Deletion Duplication Inversion Translocation
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What are the four chromosomal mutations?
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Deletion
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all or part of a chromosome is lost.
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Duplication
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extra copy of all or part of a chromosome
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Inversion
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part of a chromosome switches direction.
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Translocation
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part of one chromosome breaks off and attaches to another chromosome.
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Mutagens
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chemical or physical agents in the environment that can cause mutations. Many mutation have little to no effect on genes. Others have harmful effects some beneficial.
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Harmful Effects of Mutations
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decreases an organism's chance of survival. Changes in the DNA (mutation) can change shapes or gene activity which can change phenotypes. Can interfere with biological activity.
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Sickle-Cell Disease
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affects red blood cells specifically hemoglobin, protein that binds to oxygen. Frameshift Mutations on chromosome 11
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Huntington's Disease
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brain disorder that affects the ability to think, talk, and move. Insertion Mutation of chromosome 4; affect protein in the brain
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Cystic Fibrosis
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causes severe damage to lungs and digestive system. Frameshift Mutation (deletion) on chromosome 7
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Crohn's Disease
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inflammation to the lining of digestive system. Frameshift Mutations (insertion) leading to premature stop
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Tay-Sachs Disease
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fatal disease affecting the central nervous system. Single base substitutions, deletions and insertions.
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Chromosomal Disorders
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entire chromosomes, or large segments of them are missing or duplicated.
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Nondisjunction
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chromosomes do not separate during meiosis; extra or missing chromosomes.
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Polyploid Plants
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drugs keep chromosomes from separating in plants (nondisjunction)
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Germline Mutations (hereditary)
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mutations in the reproductive cells. Inherited from a parent; present in every cell of the body. Can be passed on to offspring through reproductive cells.
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Somatic Mutations (Acquired)
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acquired during a person's life; not in every cell- only in those cells affected. Only affects cells that are produced by the orginal affected cell. Cannot be passed onto offspring.