Principle of Inheritance and VariationMediumBloom L3
Question
Point mutation involves:
Options
A.change in single base pair
B.duplication
C.deletion
D.insertion
Solution
Sol.(a) [Key Concept: Point Mutation — Definition] Point mutation involves a CHANGE IN A SINGLE BASE PAIR of DNA. This includes: substitutions (one base replaced by another — transitions: purine↔︎purine or pyrimidine↔︎pyrimidine; transversions: purine↔︎pyrimidine), insertions of one base pair, or deletions of one base pair. Large-scale duplications, deletions, or insertions are chromosomal mutations, not point mutations. Sickle cell anaemia is caused by a classic point mutation (GAG→GTG/GUG substitution).
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