• Gene mutations are changes in the base sequence of DNA
• Main types are substitution, insertion, deletion, and duplication
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Start with the concept explanation, then practise to create mastery evidence.
2
Learning objective
D1.3.2—Base substitution consequences
New
• Base substitutions can create SNPs and change codons
• Degeneracy can make substitutions silent, missense, or nonsense
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Start with the concept explanation, then practise to create mastery evidence.
3
Learning objective
D1.3.3—Insertion and deletion consequences
New
• Insertions or deletions not in multiples of three cause frameshifts
• Frameshifts alter downstream codons and often disrupt protein function
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Start with the concept explanation, then practise to create mastery evidence.
4
Learning objective
D1.3.4—Causes of mutation
New
• Mutations can arise from replication errors, repair errors, or chromosome damage
• Mutagens include chemicals, ionizing radiation, and ultraviolet radiation
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Start with the concept explanation, then practise to create mastery evidence.
5
Learning objective
D1.3.5—Randomness in mutation
New
• Mutations occur randomly with respect to organism need or advantage
• Mutation rate varies with DNA sequence, gene expression, repair, and mutagen exposure
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Start with the concept explanation, then practise to create mastery evidence.
6
Learning objective
D1.3.6—Consequences in germ vs. somatic cells
New
• Germ-line mutations can be inherited by offspring
• Somatic mutations affect only descendant body cells and can contribute to cancer
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Start with the concept explanation, then practise to create mastery evidence.
7
Learning objective
D1.3.7—Mutation as source of variation
New
• Mutation is the original source of new alleles and genetic variation
• Many mutations are neutral or harmful, but variation supplies material for natural selection
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Start with the concept explanation, then practise to create mastery evidence.
8
Learning objective
D1.3.8 (HL)—Gene knockout
New
• Gene knockout makes a specific gene non-functional to investigate phenotype
• Model organisms such as mice, Drosophila, zebrafish, and Arabidopsis support KO libraries
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Mastery
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Mistakes
Start with the concept explanation, then practise to create mastery evidence.
9
Learning objective
D1.3.9 (HL)—CRISPR-Cas9 gene editing
New
• Guide RNA directs Cas9 to a complementary DNA target sequence
• Cas9 cutting enables deletion, replacement, insertion, or gene disruption
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Mastery
0
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0
Mistakes
Start with the concept explanation, then practise to create mastery evidence.
10
Learning objective
D1.3.10 (HL)—Conserved sequences
New
• Conserved sequences remain similar across species or long evolutionary times
• Conservation suggests essential function, lower mutation rate, or strong purifying selection
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Mastery
0
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0
Mistakes
Start with the concept explanation, then practise to create mastery evidence.